Canonical Allele Identifier: CA1220414481
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1661576084

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779887_215779888insTATAT , CM000663.2:g.215779887_215779888insTATAT GRCh38
NC_000001.10:g.215953229_215953230insTATAT , CM000663.1:g.215953229_215953230insTATAT GRCh37
NC_000001.9:g.214019852_214019853insTATAT NCBI36
NG_009497.1:g.648509_648510insATATA
NG_009497.2:g.648561_648562insATATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10894_10895insATATA MANE Select ENSP00000305941.3:p.Leu3632HisfsTer?
ENST00000674083.1:c.10894_10895insATATA ENSP00000501296.1:p.Leu3632HisfsTer?
ENST00000307340.7:c.10894_10895insATATA ENSP00000305941.3:p.Leu3632HisfsTer?
NM_206933.2:c.10894_10895insATATA NP_996816.2:p.Leu3632HisfsTer?
NM_206933.3:c.10894_10895insATATA NP_996816.2:p.Leu3632HisfsTer?
NM_206933.4:c.10894_10895insATATA MANE Select NP_996816.3:p.Leu3632HisfsTer?