Canonical Allele Identifier: CA1220414484

Gene: USH2A

Linked Data

• dbSNP Id: rs1661576140

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779889_215779890insGGTCA , CM000663.2:g.215779889_215779890insGGTCA	GRCh38
NC_000001.10:g.215953231_215953232insGGTCA , CM000663.1:g.215953231_215953232insGGTCA	GRCh37
NC_000001.9:g.214019854_214019855insGGTCA	NCBI36
NG_009497.1:g.648508_648509insGACCT
NG_009497.2:g.648560_648561insGACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10893_10894insGACCT MANE Select	ENSP00000305941.3:p.Leu3632AspfsTer?
ENST00000674083.1:c.10893_10894insGACCT	ENSP00000501296.1:p.Leu3632AspfsTer?
ENST00000307340.7:c.10893_10894insGACCT	ENSP00000305941.3:p.Leu3632AspfsTer?
NM_206933.2:c.10893_10894insGACCT	NP_996816.2:p.Leu3632AspfsTer?
NM_206933.3:c.10893_10894insGACCT	NP_996816.2:p.Leu3632AspfsTer?
NM_206933.4:c.10893_10894insGACCT MANE Select	NP_996816.3:p.Leu3632AspfsTer?