Canonical Allele Identifier: CA1220596635

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216198297_216198298delinsTA , CM000663.2:g.216198297_216198298delinsTA	GRCh38
NC_000001.10:g.216371639_216371640delinsTA , CM000663.1:g.216371639_216371640delinsTA	GRCh37
NC_000001.9:g.214438262_214438263delinsTA	NCBI36
NG_009497.1:g.230099_230100delinsTA
NG_009497.2:g.230151_230152delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4081+17_4081+18delinsTA (USH2A) MANE Select	ENSP00000305941.3:n.4081+17_4081+18delinsTA
ENST00000674083.1:c.4081+17_4081+18delinsTA (USH2A)	ENSP00000501296.1:n.4081+17_4081+18delinsTA
ENST00000307340.7:c.4081+17_4081+18delinsTA (USH2A)	ENSP00000305941.3:n.4081+17_4081+18delinsTA
ENST00000366942.3:c.4081+17_4081+18delinsTA (USH2A)	ENSP00000355909.3:n.4081+17_4081+18delinsTA
NM_007123.5:c.4081+17_4081+18delinsTA (USH2A)	NP_009054.5:n.4081+17_4081+18delinsTA
NM_206933.2:c.4081+17_4081+18delinsTA (USH2A)	NP_996816.2:n.4081+17_4081+18delinsTA
XR_922595.1:n.354+2372_354+2373delinsTA (USH2A-AS1)
XR_922596.1:n.354+2372_354+2373delinsTA (USH2A-AS1)
XR_922597.1:n.354+2372_354+2373delinsTA (USH2A-AS1)
XR_922598.1:n.484+2372_484+2373delinsTA (USH2A-AS1)
XR_922595.3:n.1076+2372_1076+2373delinsTA (USH2A-AS1)
XR_922596.3:n.1076+2372_1076+2373delinsTA (USH2A-AS1)
NM_206933.3:c.4081+17_4081+18delinsTA (USH2A)	NP_996816.2:n.4081+17_4081+18delinsTA
NM_007123.6:c.4081+17_4081+18delinsTA (USH2A)	NP_009054.6:n.4081+17_4081+18delinsTA
NM_206933.4:c.4081+17_4081+18delinsTA (USH2A) MANE Select	NP_996816.3:n.4081+17_4081+18delinsTA