Canonical Allele Identifier: CA913072794

Gene: USH2A USH2A-AS1

Linked Data

• MyVariant Identifiers: chr1:g.216373190_216373191del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216199848_216199849del , CM000663.2:g.216199848_216199849del	GRCh38
NC_000001.10:g.216373190_216373191del , CM000663.1:g.216373190_216373191del	GRCh37
NC_000001.9:g.214439813_214439814del	NCBI36
NG_009497.1:g.228548_228549del
NG_009497.2:g.228600_228601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3589_3590del (USH2A) MANE Select	ENSP00000305941.3:p.Ser1197LeufsTer5
ENST00000674083.1:c.3589_3590del (USH2A)	ENSP00000501296.1:p.Ser1197LeufsTer5
ENST00000307340.7:c.3589_3590del (USH2A)	ENSP00000305941.3:p.Ser1197LeufsTer5
ENST00000366942.3:c.3589_3590del (USH2A)	ENSP00000355909.3:p.Ser1197LeufsTer5
NM_007123.5:c.3589_3590del (USH2A)	NP_009054.5:p.Ser1197LeufsTer5
NM_206933.2:c.3589_3590del (USH2A)	NP_996816.2:p.Ser1197LeufsTer5
XR_922595.1:n.354+3923_354+3924del (USH2A-AS1)
XR_922596.1:n.354+3923_354+3924del (USH2A-AS1)
XR_922597.1:n.354+3923_354+3924del (USH2A-AS1)
XR_922598.1:n.484+3923_484+3924del (USH2A-AS1)
XR_922595.3:n.1076+3923_1076+3924del (USH2A-AS1)
XR_922596.3:n.1076+3923_1076+3924del (USH2A-AS1)
NM_206933.3:c.3589_3590del (USH2A)	NP_996816.2:p.Ser1197LeufsTer5
NM_007123.6:c.3589_3590del (USH2A)	NP_009054.6:p.Ser1197LeufsTer5
NM_206933.4:c.3589_3590del (USH2A) MANE Select	NP_996816.3:p.Ser1197LeufsTer5