Canonical Allele Identifier: CA2667615084
Gene: RHO HGNC NCBI

Linked Data

gnomAD v4: 3-129528856-C-CGCCT
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528857_129528860dup , CM000665.2:g.129528857_129528860dup GRCh38
NC_000003.11:g.129247700_129247703dup , CM000665.1:g.129247700_129247703dup GRCh37
NC_000003.10:g.130730390_130730393dup NCBI36
NG_009115.1:g.5219_5222dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.124_127dup MANE Select ENSP00000296271.3:p.Tyr43CysfsTer?
ENST00000296271.3:c.124_127dup ENSP00000296271.3:p.Tyr43CysfsTer?
NM_000539.3:c.124_127dup MANE Select NP_000530.1:p.Tyr43CysfsTer?
Search 100 bp 5'
Search 100 bp 3'