Canonical Allele Identifier: CA2697556846
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 2763334
ClinVar RCV Id: RCV003565050

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530865_129530866delinsAA , CM000665.2:g.129530865_129530866delinsAA GRCh38
NC_000003.11:g.129249708_129249709delinsAA , CM000665.1:g.129249708_129249709delinsAA GRCh37
NC_000003.10:g.130732398_130732399delinsAA NCBI36
NG_009115.1:g.7227_7228delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-11_362-10delinsAA MANE Select ENSP00000296271.3:n.362-11_362-10delinsAA
ENST00000296271.3:c.362-11_362-10delinsAA ENSP00000296271.3:n.362-11_362-10delinsAA
NM_000539.3:c.362-11_362-10delinsAA MANE Select NP_000530.1:n.362-11_362-10delinsAA