Canonical Allele Identifier: CA1012219778

Gene: USH2A USH2A-AS1

Linked Data

• gnomAD v3: 1-216200129-G-GAAAAAA
• gnomAD v4: 1-216200129-G-GAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216200133_216200134insAAAAAA , CM000663.2:g.216200133_216200134insAAAAAA	GRCh38
NC_000001.10:g.216373475_216373476insAAAAAA , CM000663.1:g.216373475_216373476insAAAAAA	GRCh37
NC_000001.9:g.214440098_214440099insAAAAAA	NCBI36
NG_009497.1:g.228267_228268insTTTTTT
NG_009497.2:g.228319_228320insTTTTTT

Transcript Alleles

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