Canonical Allele Identifier: CA82648096
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs60744548
gnomAD v2: 3-129249373-C-CA
gnomAD v3: 3-129530530-C-CA
gnomAD v4: 3-129530530-C-CA
MyVariant Identifiers: chr3:g.129249375_129249376delinsACA (hg19) chr3:g.129249373_129249374insA (hg19) chr3:g.129530532_129530533delinsACA (hg38) chr3:g.129530530_129530531insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530531dup , CM000665.2:g.129530531dup GRCh38
NC_000003.11:g.129249374dup , CM000665.1:g.129249374dup GRCh37
NC_000003.10:g.130732064dup NCBI36
NG_009115.1:g.6893dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-345dup MANE Select ENSP00000296271.3:n.362-345dup
ENST00000296271.3:c.362-345dup ENSP00000296271.3:n.362-345dup
NM_000539.3:c.362-345dup MANE Select NP_000530.1:n.362-345dup
Search 100 bp 5'
Search 100 bp 3'