We read every piece of feedback, and take your input very seriously.
To see all available qualifiers, see our documentation.
Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.
By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.
Already on GitHub? Sign in to your account
In hg38 reference genome, chr3 149520808 C CTTAA translates to NM_015472.6:c.1199_1200insTTAA and p.*402*ext*9.
chr3 149520808 C CTTAA
NM_015472.6:c.1199_1200insTTAA
p.*402*ext*9
The resulting protein change is p.=, as the stop codon at position 401 is unaffected.
p.=
Repro 🐛
(require '[varity.vcf-to-hgvs :as v2h]) (v2h/vcf-variant->protein-hgvs {:chr "chr3" :pos 149520808 :ref "C" :alt "CTTAA"} "/path/to/hg38.fa" "/pat/to//ncbiRefSeq_hg38_20210909.txt.gz") ;=> (#clj-hgvs/hgvs "p.*402*ext*9")
The text was updated successfully, but these errors were encountered:
Successfully merging a pull request may close this issue.
In hg38 reference genome,
chr3 149520808 C CTTAA
translates toNM_015472.6:c.1199_1200insTTAA
andp.*402*ext*9
.The resulting protein change is
p.=
, as the stop codon at position 401 is unaffected.Repro 🐛
The text was updated successfully, but these errors were encountered: