11Allele :
2+ # SNV 1 - rsid substitution literal seq expr
23 - name : " rs7412@GRCh38>T w/LiteralSequenceExpression"
34 in :
45 location :
@@ -19,6 +20,7 @@ Allele:
1920 ga4gh_1_3_identify : ga4gh:VA.CxiA_hvYbkD8Vqwjhx5AYuyul4mtlkpD
2021 ga4gh_serialize : ' {"location":"wIlaGykfwHIpPY2Fcxtbx4TINbbODFVz","state":{"sequence":"T","type":"LiteralSequenceExpression"},"type":"Allele"}'
2122 ga4gh_1_3_serialize : ' {"location":"QrRSuBj-VScAGV_gEdxNgsnh41jYH1Kg","state":{"sequence":"T","type":"LiteralSequenceExpression"},"type":"Allele"}'
23+ # SNV 2 - spdi rle seq expr
2224 - name : " NC_000001.11:40819438:CTCCTCCT:CTCCTCCTCCT w/ReferenceLengthExpression"
2325 in :
2426 type : Allele
@@ -113,7 +115,7 @@ Allele:
113115 ga4gh_digest : wqSJ6wZXwjensLdk5XNo2YldiDUYfrKa
114116 ga4gh_identify : ga4gh:VA.wqSJ6wZXwjensLdk5XNo2YldiDUYfrKa
115117 ga4gh_serialize : ' '
116- - name : " NC_000008.11:g.38148689_38148693del"
118+ - name : " NC_000008.11:g.38148689_38148693del"
117119 in :
118120 type : Allele
119121 location :
@@ -132,8 +134,8 @@ Allele:
132134 out :
133135 ga4gh_digest : 4GjeORfLxGnNzZhQrYQLL4SRt6teQJ2q
134136 ga4gh_identify : ga4gh:VA.4GjeORfLxGnNzZhQrYQLL4SRt6teQJ2q
135- ga4gh_serialize : ' '
136- - name : " NC_000001.11:g.235470576_235470592="
137+ ga4gh_serialize : ' '
138+ - name : " NC_000001.11:g.235470576_235470592="
137139 in :
138140 location :
139141 end : 235470592
@@ -151,8 +153,8 @@ Allele:
151153 out :
152154 ga4gh_digest : RVcqUyVeIlmWaMGW1PmcQsDH5JdfYzyC
153155 ga4gh_identify : ga4gh:VA.RVcqUyVeIlmWaMGW1PmcQsDH5JdfYzyC
154- ga4gh_serialize : ' '
155- - name : " NC_000004.12:g.41745947_41746015del"
156+ ga4gh_serialize : ' '
157+ - name : " NC_000004.12:g.41745947_41746015del"
156158 in :
157159 location :
158160 end : 41746015
@@ -172,3 +174,119 @@ Allele:
172174 ga4gh_digest : 70_wlPlnVy0bP8GxbBOn9xDU3YJTs_rA
173175 ga4gh_identify : ga4gh:VA.70_wlPlnVy0bP8GxbBOn9xDU3YJTs_rA
174176 ga4gh_serialize : ' '
177+
178+ # INS 1- HGVS same as ref aka 0 length insertion in ClinVar:16769
179+ # . b38 chr 11 refget digest 2NkFm8HK88MqeNkCgj78KidCAXgnsfV1
180+ - name : NC_000011.10:g.634826_636065=
181+ in :
182+ location :
183+ end : 636065
184+ start : 634825
185+ sequenceReference :
186+ id : NC_000011.10
187+ type : SequenceReference
188+ refgetAccession : SQ.2NkFm8HK88MqeNkCgj78KidCAXgnsfV1
189+ type : SequenceLocation
190+ state :
191+ type : ReferenceLengthExpression,
192+ length : 1240,
193+ repeatSubunitLength : 1240
194+ type : Allele
195+ out :
196+ ga4gh_digest : STI1ohAiBF1ewbGuhzgtiX93Jtpb7Yxx
197+ ga4gh_identify : ga4gh:VA.STI1ohAiBF1ewbGuhzgtiX93Jtpb7Yxx
198+ ga4gh_1_3_identify : tbd
199+ ga4gh_serialize : tbd
200+ ga4gh_1_3_serialize : tbd
201+
202+ # INS 2 - 20bp ins spdi clinvar:2754208 NC_000001.11:156114976:CGCTGTCGCCCA:CGCTGTCGCCCAGCCGGGTGCGCTGTCGCCCA
203+ # b38 chr 1 refget digest refgetAccession: SQ.Ya6Rs7DHhDeg7YaOSg1EoNi3U_nQ9SvO
204+ - name : NC_000001.11:156114976:CGCTGTCGCCCA:CGCTGTCGCCCAGCCGGGTGCGCTGTCGCCCA
205+ in :
206+ location :
207+ end : 156114988
208+ start : 156114976
209+ sequenceReference :
210+ id : NC_000001.11
211+ type : SequenceReference
212+ refgetAccession : SQ.Ya6Rs7DHhDeg7YaOSg1EoNi3U_nQ9SvO
213+ type : SequenceLocation
214+ state :
215+ type : LiteralSequenceExpression,
216+ sequence : CGCTGTCGCCCAGCCGGGTGCGCTGTCGCCCA
217+ type : Allele
218+ out :
219+ ga4gh_digest : aSGvaBA29kCllvlpVZ_K42zun-bUJr7P
220+ ga4gh_identify : ga4gh:VA.aSGvaBA29kCllvlpVZ_K42zun-bUJr7P
221+ ga4gh_1_3_identify : tbd
222+ ga4gh_serialize : tbd
223+ ga4gh_1_3_serialize : tbd
224+
225+ # INS 3 - clinvar:2505293 1bp ins hgvs NC_000001.11:g.171635973_171635974insG
226+ # b38 chr 1 refget digest 2NkFm8HK88MqeNkCgj78KidCAXgnsfV1
227+ - name : NC_000001.11:g.171635973_171635974insG
228+ in :
229+ location :
230+ end : 171635973
231+ start : 171635973
232+ sequenceReference :
233+ id : NC_000001.11
234+ type : SequenceReference
235+ refgetAccession : SQ.Ya6Rs7DHhDeg7YaOSg1EoNi3U_nQ9SvO
236+ type : SequenceLocation
237+ state :
238+ type : LiteralSequenceExpression,
239+ sequence : G
240+ type : Allele
241+ out :
242+ ga4gh_digest : u1Hf1ykStM6WPW8OZ3CDWQdT3r_IPkbo
243+ ga4gh_identify : ga4gh:VA.u1Hf1ykStM6WPW8OZ3CDWQdT3r_IPkbo
244+ ga4gh_1_3_identify : tbd
245+ ga4gh_serialize : tbd
246+ ga4gh_1_3_serialize : tbd
247+
248+ # INS 4 - clinvar:1456419 132bp ins spdi NC_000002.12:g.15277082_15277083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGGCTCTATTTTC
249+ # b38 chr 2 refget digest ???
250+ - name : NC_000002.12:g.15277082_15277083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGGCTCTATTTTC
251+ in :
252+ location :
253+ end :
254+ start :
255+ sequenceReference :
256+ id : NC_000002.12
257+ type : SequenceReference
258+ refgetAccession :
259+ type : SequenceLocation
260+ state :
261+ type : LiteralSequenceExpression,
262+ sequence :
263+ type : Allele
264+ out :
265+ ga4gh_digest : tbd
266+ ga4gh_identify : tbd
267+ ga4gh_1_3_identify : tbd
268+ ga4gh_serialize : tbd
269+ ga4gh_1_3_serialize : tbd
270+
271+ # 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
273+ - name : NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]
274+ in :
275+ location :
276+ end :
277+ start :
278+ sequenceReference :
279+ id : NC_000008.11
280+ type : SequenceReference
281+ refgetAccession :
282+ type : SequenceLocation
283+ state :
284+ type : LiteralSequenceExpression,
285+ sequence :
286+ type : Allele
287+ out :
288+ ga4gh_digest : tbd
289+ ga4gh_identify : tbd
290+ ga4gh_1_3_identify : tbd
291+ ga4gh_serialize : tbd
292+ ga4gh_1_3_serialize : tbd
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