Canonical Allele Identifier: CA546228071
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1578279382
gnomAD v2: 3-129249411-A-ACACACACACACACAC
gnomAD v3: 3-129530568-A-ACACACACACACACAC
gnomAD v4: 3-129530568-A-ACACACACACACACAC
MyVariant Identifiers: chr3:g.129249411_129249412insCACACACACACACAC (hg19) chr3:g.129530568_129530569insCACACACACACACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530568_129530569insCACACACACACACAC , CM000665.2:g.129530568_129530569insCACACACACACACAC GRCh38
NC_000003.11:g.129249411_129249412insCACACACACACACAC , CM000665.1:g.129249411_129249412insCACACACACACACAC GRCh37
NC_000003.10:g.130732101_130732102insCACACACACACACAC NCBI36
NG_009115.1:g.6930_6931insCACACACACACACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-308_362-307insCACACACACACACAC MANE Select ENSP00000296271.3:n.362-308_362-307insCACACACACACACAC
ENST00000296271.3:c.362-308_362-307insCACACACACACACAC ENSP00000296271.3:n.362-308_362-307insCACACACACACACAC
NM_000539.3:c.362-308_362-307insCACACACACACACAC MANE Select NP_000530.1:n.362-308_362-307insCACACACACACACAC
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