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how to Check whether p.val meets the HGVS specification

Status: Open.

#64 In counsyl/hgvs;

· user-tq opened on Jan 31, 2023

hgvs/pyhgvs/data/genes.refGen file

Status: Open.

#63 In counsyl/hgvs;

· dyj1999 opened on Sep 26, 2022

Announcing cdot - a way to load lots of transcripts fast

Status: Open.

#62 In counsyl/hgvs;

· davmlaw opened on Feb 3, 2022

Reference HGVS without reference base leads to wrong coordinates and reference allele

Status: Open.

#61 In counsyl/hgvs;

· davmlaw opened on Dec 9, 2021

HGVS / genome coordinate conversion does not account for cDNA alignment gaps

Status: Open.

#60 In counsyl/hgvs;

· davmlaw opened on Sep 22, 2021

Python3 version

Status: Open.

#59 In counsyl/hgvs;

· yangyxt opened on Aug 2, 2021

Support inversions (inv)

Status: Open.

#58 In counsyl/hgvs;

· davmlaw opened on May 28, 2021

dup longer than 100 bases converted back to delins (due to hardcoding of 100 in code)

Status: Open.

#57 In counsyl/hgvs;

· davmlaw opened on May 28, 2021

how to get pdot

Status: Open.

#56 In counsyl/hgvs;

· kias opened on May 19, 2021

pyhgvs normalize is right,but not give base number instead of base itself

Status: Open.

#52 In counsyl/hgvs;

· wentgithub opened on Dec 6, 2019

Incorrect HGVS to VCF conversion for some genomic indels

Status: Open.

#50 In counsyl/hgvs;

· davmlaw opened on Sep 25, 2019

Is there a way to use this to convert protein HGVS to genome space VCF coordinates?

Status: Open.

#44 In counsyl/hgvs;

· jimhavrilla opened on Mar 21, 2018