This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: COLQ HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000474271.1:p.[Gly231_Gln241delinsGluAspGlnGluAsnGluAlaSerArgAspArg;Asp244_Pro254delinsIleValGluLeuTrpAlaHisGlnAlaSerLeu;Pro256_Pro260delinsLeuLeuValAsnLeu]
CA2577521853
ENST00000603808.5:c.692del