Canonical Allele Identifier: CA2747734330

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216200123_216200124insACTC , CM000663.2:g.216200123_216200124insACTC	GRCh38
NC_000001.10:g.216373465_216373466insACTC , CM000663.1:g.216373465_216373466insACTC	GRCh37
NC_000001.9:g.214440088_214440089insACTC	NCBI36
NG_009497.1:g.228273_228274insGAGT
NG_009497.2:g.228325_228326insGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3317-3_3317-2insGAGT (USH2A) MANE Select	ENSP00000305941.3:n.3317-3_3317-2insGAGT
ENST00000674083.1:c.3317-3_3317-2insGAGT (USH2A)	ENSP00000501296.1:n.3317-3_3317-2insGAGT
ENST00000307340.7:c.3317-3_3317-2insGAGT (USH2A)	ENSP00000305941.3:n.3317-3_3317-2insGAGT
ENST00000366942.3:c.3317-3_3317-2insGAGT (USH2A)	ENSP00000355909.3:n.3317-3_3317-2insGAGT
NM_007123.5:c.3317-3_3317-2insGAGT (USH2A)	NP_009054.5:n.3317-3_3317-2insGAGT
NM_206933.2:c.3317-3_3317-2insGAGT (USH2A)	NP_996816.2:n.3317-3_3317-2insGAGT
XR_922595.1:n.355-3907_355-3906insACTC (USH2A-AS1)
XR_922596.1:n.354+4198_354+4199insACTC (USH2A-AS1)
XR_922597.1:n.354+4198_354+4199insACTC (USH2A-AS1)
XR_922598.1:n.485-3907_485-3906insACTC (USH2A-AS1)
XR_922595.3:n.1077-3907_1077-3906insACTC (USH2A-AS1)
XR_922596.3:n.1076+4198_1076+4199insACTC (USH2A-AS1)
NM_206933.3:c.3317-3_3317-2insGAGT (USH2A)	NP_996816.2:n.3317-3_3317-2insGAGT
NM_007123.6:c.3317-3_3317-2insGAGT (USH2A)	NP_009054.6:n.3317-3_3317-2insGAGT
NM_206933.4:c.3317-3_3317-2insGAGT (USH2A) MANE Select	NP_996816.3:n.3317-3_3317-2insGAGT