Canonical Allele Identifier: CA2697554928

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 2701765
• ClinVar RCV Id: RCV003549850

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207261_216207268del , CM000663.2:g.216207261_216207268del	GRCh38
NC_000001.10:g.216380603_216380610del , CM000663.1:g.216380603_216380610del	GRCh37
NC_000001.9:g.214447226_214447233del	NCBI36
NG_009497.1:g.221133_221140del
NG_009497.2:g.221185_221192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3316+9_3316+16del (USH2A) MANE Select	ENSP00000305941.3:n.3316+9_3316+16del
ENST00000674083.1:c.3316+9_3316+16del (USH2A)	ENSP00000501296.1:n.3316+9_3316+16del
ENST00000307340.7:c.3316+9_3316+16del (USH2A)	ENSP00000305941.3:n.3316+9_3316+16del
ENST00000366942.3:c.3316+9_3316+16del (USH2A)	ENSP00000355909.3:n.3316+9_3316+16del
NM_007123.5:c.3316+9_3316+16del (USH2A)	NP_009054.5:n.3316+9_3316+16del
NM_206933.2:c.3316+9_3316+16del (USH2A)	NP_996816.2:n.3316+9_3316+16del
XR_922596.1:n.354+11336_354+11343del (USH2A-AS1)
XR_922597.1:n.354+11336_354+11343del (USH2A-AS1)
XR_922596.3:n.1076+11336_1076+11343del (USH2A-AS1)
NM_206933.3:c.3316+9_3316+16del (USH2A)	NP_996816.2:n.3316+9_3316+16del
NM_007123.6:c.3316+9_3316+16del (USH2A)	NP_009054.6:n.3316+9_3316+16del
NM_206933.4:c.3316+9_3316+16del (USH2A) MANE Select	NP_996816.3:n.3316+9_3316+16del