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Issues list

how to Check whether p.val meets the HGVS specification
#64 opened Jan 31, 2023 by user-tq
1
hgvs/pyhgvs/data/genes.refGen file
#63 opened Sep 26, 2022 by dyj1999
2
Announcing cdot - a way to load lots of transcripts fast
#62 opened Feb 3, 2022 by davmlaw
Reference HGVS without reference base leads to wrong coordinates and reference allele
#61 opened Dec 9, 2021 by davmlaw
HGVS / genome coordinate conversion does not account for cDNA alignment gaps
#60 opened Sep 22, 2021 by davmlaw
1
Python3 version
#59 opened Aug 2, 2021 by yangyxt
1
Support inversions (inv)
#58 opened May 28, 2021 by davmlaw
1
dup longer than 100 bases converted back to delins (due to hardcoding of 100 in code)
#57 opened May 28, 2021 by davmlaw
1
how to get pdot
#56 opened May 19, 2021 by kias
1
pyhgvs normalize is right,but not give base number instead of base itself
#52 opened Dec 6, 2019 by wentgithub
Incorrect HGVS to VCF conversion for some genomic indels
#50 opened Sep 25, 2019 by davmlaw
1
Is there a way to use this to convert protein HGVS to genome space VCF coordinates?
#44 opened Mar 21, 2018 by jimhavrilla
how to get coordinate of "AB026906.1:c.40_42del" by hgvs code
#40 opened Sep 6, 2017 by anopperl
how to create or find "genes.refGene" file for hg19 and hg38
#39 opened Aug 18, 2017 by anopperl
11
Add NC_ALLELE parse
#36 opened Mar 23, 2017 by qins
Unable to parse a HGVS variant in format that VEP accepts
#35 opened Mar 22, 2017 by jimhavrilla
2
Incorrect translation when the HGVS string does not contain a reference or alt allele
#32 opened Feb 15, 2017 by melissacline
1
how to get genes.refGene with version
#28 opened Aug 12, 2016 by anopperl
add pip install
#27 opened Aug 7, 2016 by MollyZhang
1
update of genes.refGene files
#26 opened Jun 28, 2016 by adelpozomt
11
Rename repository to pyhgvs?
#19 opened Mar 12, 2015 by ChrisBeaumont
enhancement - add compatibility with RNA and non-coding RNA sequences
#7 opened Dec 26, 2013 by gitanoqevaporelmundoentero
ProTip! no:milestone will show everything without a milestone.