Canonical Allele Identifier: CA546228043
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1403779259
gnomAD v2: 3-129249370-ACACACAACAC-A
gnomAD v3: 3-129530527-ACACACAACAC-A
gnomAD v4: 3-129530527-ACACACAACAC-A
MyVariant Identifiers: chr3:g.129249371_129249380del (hg19) chr3:g.129530528_129530537del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530528_129530537del , CM000665.2:g.129530528_129530537del GRCh38
NC_000003.11:g.129249371_129249380del , CM000665.1:g.129249371_129249380del GRCh37
NC_000003.10:g.130732061_130732070del NCBI36
NG_009115.1:g.6890_6899del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-348_362-339del MANE Select ENSP00000296271.3:n.362-348_362-339del
ENST00000296271.3:c.362-348_362-339del ENSP00000296271.3:n.362-348_362-339del
NM_000539.3:c.362-348_362-339del MANE Select NP_000530.1:n.362-348_362-339del
Search 100 bp 5'
Search 100 bp 3'