Canonical Allele Identifier: CA546228047
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1175399101
gnomAD v2: 3-129249373-CACA-C
gnomAD v3: 3-129530530-CACA-C
gnomAD v4: 3-129530530-CACA-C
MyVariant Identifiers: chr3:g.129249374_129249376del (hg19) chr3:g.129530531_129530533del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530534_129530536del , CM000665.2:g.129530534_129530536del GRCh38
NC_000003.11:g.129249377_129249379del , CM000665.1:g.129249377_129249379del GRCh37
NC_000003.10:g.130732067_130732069del NCBI36
NG_009115.1:g.6896_6898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-342_362-340del MANE Select ENSP00000296271.3:n.362-342_362-340del
ENST00000296271.3:c.362-342_362-340del ENSP00000296271.3:n.362-342_362-340del
NM_000539.3:c.362-342_362-340del MANE Select NP_000530.1:n.362-342_362-340del
Search 100 bp 5'
Search 100 bp 3'