Canonical Allele Identifier: CA2580068732
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1707636
ClinVar RCV Id: RCV002286615
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528927_129528938del , CM000665.2:g.129528927_129528938del GRCh38
NC_000003.11:g.129247770_129247781del , CM000665.1:g.129247770_129247781del GRCh37
NC_000003.10:g.130730460_130730471del NCBI36
NG_009115.1:g.5289_5300del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.194_205del MANE Select ENSP00000296271.3:p.His65_Leu68del
ENST00000296271.3:c.194_205del ENSP00000296271.3:p.His65_Leu68del
NM_000539.3:c.194_205del MANE Select NP_000530.1:p.His65_Leu68del
Search 100 bp 5'
Search 100 bp 3'