Canonical Allele Identifier: CA1220619279

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247162_216247166delinsACATC , CM000663.2:g.216247162_216247166delinsACATC	GRCh38
NC_000001.10:g.216420504_216420508delinsACATC , CM000663.1:g.216420504_216420508delinsACATC	GRCh37
NC_000001.9:g.214487127_214487131delinsACATC	NCBI36
NG_009497.1:g.181231_181235delinsGATGT
NG_009497.2:g.181283_181287delinsGATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2228_2232delinsGATGT MANE Select	ENSP00000305941.3:p.Gly743=
ENST00000674083.1:c.2228_2232delinsGATGT	ENSP00000501296.1:p.Gly743=
ENST00000307340.7:c.2228_2232delinsGATGT	ENSP00000305941.3:p.Gly743=
ENST00000366942.3:c.2228_2232delinsGATGT	ENSP00000355909.3:p.Gly743=
NM_007123.5:c.2228_2232delinsGATGT	NP_009054.5:p.Gly743=
NM_206933.2:c.2228_2232delinsGATGT	NP_996816.2:p.Gly743=
NM_206933.3:c.2228_2232delinsGATGT	NP_996816.2:p.Gly743=
NM_007123.6:c.2228_2232delinsGATGT	NP_009054.6:p.Gly743=
NM_206933.4:c.2228_2232delinsGATGT MANE Select	NP_996816.3:p.Gly743=