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: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501296.1:p.[Gln4231_Tyr4241delinsPhePheAsnAsp;Trp4243_Ser4245del;Gly4247_His4248del;Cys4250_Asn4254delinsMetAspAla;Val4256_Gln4260del]
CA1012179129
ENST00000674083.1:c.12690_12691insTTTTTTAATGATACGG