Canonical Allele Identifier: CA1220416324

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215781783_215781784delinsGA , CM000663.2:g.215781783_215781784delinsGA	GRCh38
NC_000001.10:g.215955125_215955126delinsGA , CM000663.1:g.215955125_215955126delinsGA	GRCh37
NC_000001.9:g.214021748_214021749delinsGA	NCBI36
NG_009497.1:g.646613_646614delinsTC
NG_009497.2:g.646665_646666delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10740+258_10740+259delinsTC MANE Select	ENSP00000305941.3:n.10740+258_10740+259delinsTC
ENST00000674083.1:c.10740+258_10740+259delinsTC	ENSP00000501296.1:n.10740+258_10740+259delinsTC
ENST00000307340.7:c.10740+258_10740+259delinsTC	ENSP00000305941.3:n.10740+258_10740+259delinsTC
NM_206933.2:c.10740+258_10740+259delinsTC	NP_996816.2:n.10740+258_10740+259delinsTC
NM_206933.3:c.10740+258_10740+259delinsTC	NP_996816.2:n.10740+258_10740+259delinsTC
NM_206933.4:c.10740+258_10740+259delinsTC MANE Select	NP_996816.3:n.10740+258_10740+259delinsTC