Nomenclature in HGVS

Question

[mkamranazim]

Dear All How to write 2 bp deletion at genomic coordinates "chr9:77377268-77377269delAG" according to HGVS nomenclature (http://varnomen.hgvs.org).

Can anyone help.

Regards Kamran

[cpad0112]

https://mutalyzer.nl/syntax-checker?description=chr9%3A77377268-77377269delAG for syntax checking. For converting to contig, use https://mutalyzer.nl/position-converter?assembly_name_or_alias=GRCh38&description=chr9%3A77377268-77377269delAG

[mkamranazim]

Thanks very much for help. Kamran

Answer 1

[Ram]

You have gotten it right. You could go all out and add the NC_000009.12 identifier for the chromosome but that's not always required in most settings.

[Kevin Blighe]

Yes, here are examples for some of the transcript isoforms for that gene:

• NM_001177310:exon26:c.4303_4304delAG:p.L1435fs
• NM_001177311:exon26:c.4303_4304delAG:p.L1435fs
• NM_017662:exon26:c.4318_4319delAG:p.L1440fs
• et cetera...