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Merge branch '2.1.0-connect_2026_#10' of https://github.com/ga4gh/vrs into 2.1.0-connect_2026_#10
2 parents dc1389b + 2814b0e commit b378c07

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Lines changed: 123 additions & 5 deletions

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validation/alleles.yaml

Lines changed: 123 additions & 5 deletions
Original file line numberDiff line numberDiff line change
@@ -1,4 +1,5 @@
11
Allele:
2+
# SNV 1 - rsid substitution literal seq expr
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- name: "rs7412@GRCh38>T w/LiteralSequenceExpression"
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in:
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location:
@@ -19,6 +20,7 @@ Allele:
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ga4gh_1_3_identify: ga4gh:VA.CxiA_hvYbkD8Vqwjhx5AYuyul4mtlkpD
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ga4gh_serialize: '{"location":"wIlaGykfwHIpPY2Fcxtbx4TINbbODFVz","state":{"sequence":"T","type":"LiteralSequenceExpression"},"type":"Allele"}'
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ga4gh_1_3_serialize: '{"location":"QrRSuBj-VScAGV_gEdxNgsnh41jYH1Kg","state":{"sequence":"T","type":"LiteralSequenceExpression"},"type":"Allele"}'
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# SNV 2 - spdi rle seq expr
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- name: "NC_000001.11:40819438:CTCCTCCT:CTCCTCCTCCT w/ReferenceLengthExpression"
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in:
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type: Allele
@@ -113,7 +115,7 @@ Allele:
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ga4gh_digest: wqSJ6wZXwjensLdk5XNo2YldiDUYfrKa
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ga4gh_identify: ga4gh:VA.wqSJ6wZXwjensLdk5XNo2YldiDUYfrKa
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ga4gh_serialize: ''
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- name: "NC_000008.11:g.38148689_38148693del"
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- name: "NC_000008.11:g.38148689_38148693del"
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in:
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type: Allele
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location:
@@ -132,8 +134,8 @@ Allele:
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out:
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ga4gh_digest: 4GjeORfLxGnNzZhQrYQLL4SRt6teQJ2q
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ga4gh_identify: ga4gh:VA.4GjeORfLxGnNzZhQrYQLL4SRt6teQJ2q
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ga4gh_serialize: ''
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- name: "NC_000001.11:g.235470576_235470592="
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ga4gh_serialize: ''
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- name: "NC_000001.11:g.235470576_235470592="
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in:
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location:
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end: 235470592
@@ -151,8 +153,8 @@ Allele:
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out:
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ga4gh_digest: RVcqUyVeIlmWaMGW1PmcQsDH5JdfYzyC
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ga4gh_identify: ga4gh:VA.RVcqUyVeIlmWaMGW1PmcQsDH5JdfYzyC
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ga4gh_serialize: ''
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- name: "NC_000004.12:g.41745947_41746015del"
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ga4gh_serialize: ''
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- name: "NC_000004.12:g.41745947_41746015del"
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in:
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location:
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end: 41746015
@@ -172,3 +174,119 @@ Allele:
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ga4gh_digest: 70_wlPlnVy0bP8GxbBOn9xDU3YJTs_rA
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ga4gh_identify: ga4gh:VA.70_wlPlnVy0bP8GxbBOn9xDU3YJTs_rA
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ga4gh_serialize: ''
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# INS 1- HGVS same as ref aka 0 length insertion in ClinVar:16769
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#. b38 chr 11 refget digest 2NkFm8HK88MqeNkCgj78KidCAXgnsfV1
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- name: NC_000011.10:g.634826_636065=
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in:
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location:
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end: 636065
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start: 634825
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sequenceReference:
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id: NC_000011.10
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type: SequenceReference
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refgetAccession: SQ.2NkFm8HK88MqeNkCgj78KidCAXgnsfV1
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type: SequenceLocation
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state:
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type: ReferenceLengthExpression,
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length: 1240,
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repeatSubunitLength: 1240
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type: Allele
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out:
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ga4gh_digest: STI1ohAiBF1ewbGuhzgtiX93Jtpb7Yxx
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ga4gh_identify: ga4gh:VA.STI1ohAiBF1ewbGuhzgtiX93Jtpb7Yxx
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ga4gh_1_3_identify: tbd
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ga4gh_serialize: tbd
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ga4gh_1_3_serialize: tbd
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# INS 2 - 20bp ins spdi clinvar:2754208 NC_000001.11:156114976:CGCTGTCGCCCA:CGCTGTCGCCCAGCCGGGTGCGCTGTCGCCCA
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# b38 chr 1 refget digest refgetAccession: SQ.Ya6Rs7DHhDeg7YaOSg1EoNi3U_nQ9SvO
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- name: NC_000001.11:156114976:CGCTGTCGCCCA:CGCTGTCGCCCAGCCGGGTGCGCTGTCGCCCA
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in:
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location:
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end: 156114988
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start: 156114976
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sequenceReference:
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id: NC_000001.11
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type: SequenceReference
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refgetAccession: SQ.Ya6Rs7DHhDeg7YaOSg1EoNi3U_nQ9SvO
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type: SequenceLocation
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state:
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type: LiteralSequenceExpression,
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sequence: CGCTGTCGCCCAGCCGGGTGCGCTGTCGCCCA
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type: Allele
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out:
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ga4gh_digest: aSGvaBA29kCllvlpVZ_K42zun-bUJr7P
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ga4gh_identify: ga4gh:VA.aSGvaBA29kCllvlpVZ_K42zun-bUJr7P
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ga4gh_1_3_identify: tbd
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ga4gh_serialize: tbd
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ga4gh_1_3_serialize: tbd
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# INS 3 - clinvar:2505293 1bp ins hgvs NC_000001.11:g.171635973_171635974insG
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# b38 chr 1 refget digest 2NkFm8HK88MqeNkCgj78KidCAXgnsfV1
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- name: NC_000001.11:g.171635973_171635974insG
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in:
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location:
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end: 171635973
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start: 171635973
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sequenceReference:
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id: NC_000001.11
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type: SequenceReference
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refgetAccession: SQ.Ya6Rs7DHhDeg7YaOSg1EoNi3U_nQ9SvO
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type: SequenceLocation
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state:
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type: LiteralSequenceExpression,
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sequence: G
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type: Allele
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out:
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ga4gh_digest: u1Hf1ykStM6WPW8OZ3CDWQdT3r_IPkbo
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ga4gh_identify: ga4gh:VA.u1Hf1ykStM6WPW8OZ3CDWQdT3r_IPkbo
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ga4gh_1_3_identify: tbd
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ga4gh_serialize: tbd
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ga4gh_1_3_serialize: tbd
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# INS 4 - clinvar:1456419 132bp ins spdi NC_000002.12:g.15277082_15277083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGGCTCTATTTTC
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# b38 chr 2 refget digest ???
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- name: NC_000002.12:g.15277082_15277083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGGCTCTATTTTC
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in:
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location:
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end:
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start:
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sequenceReference:
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id: NC_000002.12
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type: SequenceReference
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refgetAccession:
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type: SequenceLocation
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state:
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type: LiteralSequenceExpression,
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sequence:
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type: Allele
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out:
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ga4gh_digest: tbd
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ga4gh_identify: tbd
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ga4gh_1_3_identify: tbd
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ga4gh_serialize: tbd
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ga4gh_1_3_serialize: tbd
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# INS 5 - clinvar:430672 36,978bp ins hgvs NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]
272+
# b38 chr 8 refget digest
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- name: NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]
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in:
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location:
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end:
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start:
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sequenceReference:
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id: NC_000008.11
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type: SequenceReference
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refgetAccession:
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type: SequenceLocation
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state:
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type: LiteralSequenceExpression,
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sequence:
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type: Allele
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out:
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ga4gh_digest: tbd
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ga4gh_identify: tbd
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ga4gh_1_3_identify: tbd
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ga4gh_serialize: tbd
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ga4gh_1_3_serialize: tbd

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