Canonical Allele Identifier: CA546228056
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2084771743
gnomAD v2: 3-129249378-C-CACA
gnomAD v3: 3-129530535-C-CACA
gnomAD v4: 3-129530535-C-CACA
MyVariant Identifiers: chr3:g.129249378_129249379insACA (hg19) chr3:g.129530535_129530536insACA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530536_129530538dup , CM000665.2:g.129530536_129530538dup GRCh38
NC_000003.11:g.129249379_129249381dup , CM000665.1:g.129249379_129249381dup GRCh37
NC_000003.10:g.130732069_130732071dup NCBI36
NG_009115.1:g.6898_6900dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-340_362-338dup MANE Select ENSP00000296271.3:n.362-340_362-338dup
ENST00000296271.3:c.362-340_362-338dup ENSP00000296271.3:n.362-340_362-338dup
NM_000539.3:c.362-340_362-338dup MANE Select NP_000530.1:n.362-340_362-338dup
Search 100 bp 5'
Search 100 bp 3'