Canonical Allele Identifier: CA731346320
Gene: USH2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640862_215640863insAG , CM000663.2:g.215640862_215640863insAG GRCh38
NC_000001.10:g.215814204_215814205insAG , CM000663.1:g.215814204_215814205insAG GRCh37
NC_000001.9:g.213880827_213880828insAG NCBI36
NG_009497.1:g.787534_787535insCT
NG_009497.2:g.787586_787587insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14792-129_14792-128insCT MANE Select ENSP00000305941.3:n.14792-129_14792-128insCT
ENST00000674083.1:c.14792-129_14792-128insCT ENSP00000501296.1:n.14792-129_14792-128insCT
ENST00000307340.7:c.14792-129_14792-128insCT ENSP00000305941.3:n.14792-129_14792-128insCT
NM_206933.2:c.14792-129_14792-128insCT NP_996816.2:n.14792-129_14792-128insCT
NM_206933.3:c.14792-129_14792-128insCT NP_996816.2:n.14792-129_14792-128insCT
NM_206933.4:c.14792-129_14792-128insCT MANE Select NP_996816.3:n.14792-129_14792-128insCT