Canonical Allele Identifier: CA1220425963
Gene: USH2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798936_215798939delinsTCTC , CM000663.2:g.215798936_215798939delinsTCTC GRCh38
NC_000001.10:g.215972278_215972281delinsTCTC , CM000663.1:g.215972278_215972281delinsTCTC GRCh37
NC_000001.9:g.214038901_214038904delinsTCTC NCBI36
NG_009497.1:g.629458_629461delinsGAGA
NG_009497.2:g.629510_629513delinsGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9926_9929delinsGAGA MANE Select ENSP00000305941.3:p.Gly3309=
ENST00000674083.1:c.9926_9929delinsGAGA ENSP00000501296.1:p.Gly3309=
ENST00000307340.7:c.9926_9929delinsGAGA ENSP00000305941.3:p.Gly3309=
NM_206933.2:c.9926_9929delinsGAGA NP_996816.2:p.Gly3309=
NM_206933.3:c.9926_9929delinsGAGA NP_996816.2:p.Gly3309=
NM_206933.4:c.9926_9929delinsGAGA MANE Select NP_996816.3:p.Gly3309=