Canonical Allele Identifier: CA2650526944
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779961_215779962insG , CM000663.2:g.215779961_215779962insG GRCh38
NC_000001.10:g.215953303_215953304insG , CM000663.1:g.215953303_215953304insG GRCh37
NC_000001.9:g.214019926_214019927insG NCBI36
NG_009497.1:g.648435_648436insC
NG_009497.2:g.648487_648488insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.10820_10821insC MANE Select ENSP00000305941.3:p.Leu3608SerfsTer7
ENST00000674083.1:c.10820_10821insC ENSP00000501296.1:p.Leu3608SerfsTer7
ENST00000307340.7:c.10820_10821insC ENSP00000305941.3:p.Leu3608SerfsTer7
NM_206933.2:c.10820_10821insC NP_996816.2:p.Leu3608SerfsTer7
NM_206933.3:c.10820_10821insC NP_996816.2:p.Leu3608SerfsTer7
NM_206933.4:c.10820_10821insC MANE Select NP_996816.3:p.Leu3608SerfsTer7