Canonical Allele Identifier: CA2586968156

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779894del , CM000663.2:g.215779894del	GRCh38
NC_000001.10:g.215953236del , CM000663.1:g.215953236del	GRCh37
NC_000001.9:g.214019859del	NCBI36
NG_009497.1:g.648505del
NG_009497.2:g.648557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10890del MANE Select	ENSP00000305941.3:p.Gly3631ValfsTer?
ENST00000674083.1:c.10890del	ENSP00000501296.1:p.Gly3631ValfsTer?
ENST00000307340.7:c.10890del	ENSP00000305941.3:p.Gly3631ValfsTer?
NM_206933.2:c.10890del	NP_996816.2:p.Gly3631ValfsTer?
NM_206933.3:c.10890del	NP_996816.2:p.Gly3631ValfsTer?
NM_206933.4:c.10890del MANE Select	NP_996816.3:p.Gly3631ValfsTer?