Canonical Allele Identifier: CA2586968253

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216175364_216175367del , CM000663.2:g.216175364_216175367del	GRCh38
NC_000001.10:g.216348706_216348709del , CM000663.1:g.216348706_216348709del	GRCh37
NC_000001.9:g.214415329_214415332del	NCBI36
NG_009497.1:g.253033_253036del
NG_009497.2:g.253085_253088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4515_4518del MANE Select	ENSP00000305941.3:p.Arg1505SerfsTer7
ENST00000674083.1:c.4515_4518del	ENSP00000501296.1:p.Arg1505SerfsTer7
ENST00000307340.7:c.4515_4518del	ENSP00000305941.3:p.Arg1505SerfsTer7
ENST00000366942.3:c.4515_4518del	ENSP00000355909.3:p.Arg1505SerfsTer7
NM_007123.5:c.4515_4518del	NP_009054.5:p.Arg1505SerfsTer7
NM_206933.2:c.4515_4518del	NP_996816.2:p.Arg1505SerfsTer7
NM_206933.3:c.4515_4518del	NP_996816.2:p.Arg1505SerfsTer7
NM_007123.6:c.4515_4518del	NP_009054.6:p.Arg1505SerfsTer7
NM_206933.4:c.4515_4518del MANE Select	NP_996816.3:p.Arg1505SerfsTer7