Canonical Allele Identifier: CA2747734334

Gene: USH2A USH2A-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216200133_216200134insAAAAAAAAAAAA , CM000663.2:g.216200133_216200134insAAAAAAAAAAAA	GRCh38
NC_000001.10:g.216373475_216373476insAAAAAAAAAAAA , CM000663.1:g.216373475_216373476insAAAAAAAAAAAA	GRCh37
NC_000001.9:g.214440098_214440099insAAAAAAAAAAAA	NCBI36
NG_009497.1:g.228267_228268insTTTTTTTTTTTT
NG_009497.2:g.228319_228320insTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3317-9_3317-8insTTTTTTTTTTTT (USH2A) MANE Select	ENSP00000305941.3:n.3317-9_3317-8insTTTTTTTTTTTT
ENST00000674083.1:c.3317-9_3317-8insTTTTTTTTTTTT (USH2A)	ENSP00000501296.1:n.3317-9_3317-8insTTTTTTTTTTTT
ENST00000307340.7:c.3317-9_3317-8insTTTTTTTTTTTT (USH2A)	ENSP00000305941.3:n.3317-9_3317-8insTTTTTTTTTTTT
ENST00000366942.3:c.3317-9_3317-8insTTTTTTTTTTTT (USH2A)	ENSP00000355909.3:n.3317-9_3317-8insTTTTTTTTTTTT
NM_007123.5:c.3317-9_3317-8insTTTTTTTTTTTT (USH2A)	NP_009054.5:n.3317-9_3317-8insTTTTTTTTTTTT
NM_206933.2:c.3317-9_3317-8insTTTTTTTTTTTT (USH2A)	NP_996816.2:n.3317-9_3317-8insTTTTTTTTTTTT
XR_922595.1:n.355-3897_355-3896insAAAAAAAAAAAA (USH2A-AS1)
XR_922596.1:n.354+4208_354+4209insAAAAAAAAAAAA (USH2A-AS1)
XR_922597.1:n.354+4208_354+4209insAAAAAAAAAAAA (USH2A-AS1)
XR_922598.1:n.485-3897_485-3896insAAAAAAAAAAAA (USH2A-AS1)
XR_922595.3:n.1077-3897_1077-3896insAAAAAAAAAAAA (USH2A-AS1)
XR_922596.3:n.1076+4208_1076+4209insAAAAAAAAAAAA (USH2A-AS1)
NM_206933.3:c.3317-9_3317-8insTTTTTTTTTTTT (USH2A)	NP_996816.2:n.3317-9_3317-8insTTTTTTTTTTTT
NM_007123.6:c.3317-9_3317-8insTTTTTTTTTTTT (USH2A)	NP_009054.6:n.3317-9_3317-8insTTTTTTTTTTTT
NM_206933.4:c.3317-9_3317-8insTTTTTTTTTTTT (USH2A) MANE Select	NP_996816.3:n.3317-9_3317-8insTTTTTTTTTTTT