Canonical Allele Identifier: CA898751320
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1220213959
gnomAD v3: 3-129530531-ACAACACACAC-A
gnomAD v4: 3-129530531-ACAACACACAC-A
MyVariant Identifiers: chr3:g.129249375_129249384del (hg19) chr3:g.129530532_129530541del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530532_129530541del , CM000665.2:g.129530532_129530541del GRCh38
NC_000003.11:g.129249375_129249384del , CM000665.1:g.129249375_129249384del GRCh37
NC_000003.10:g.130732065_130732074del NCBI36
NG_009115.1:g.6894_6903del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.362-344_362-335del MANE Select ENSP00000296271.3:n.362-344_362-335del
ENST00000296271.3:c.362-344_362-335del ENSP00000296271.3:n.362-344_362-335del
NM_000539.3:c.362-344_362-335del MANE Select NP_000530.1:n.362-344_362-335del
Search 100 bp 5'
Search 100 bp 3'