Canonical Allele Identifier: CA2840853112
Gene: RHO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129531087del , CM000665.2:g.129531087del GRCh38
NC_000003.11:g.129249930del , CM000665.1:g.129249930del GRCh37
NC_000003.10:g.130732620del NCBI36
NG_009115.1:g.7449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.530+43del MANE Select ENSP00000296271.3:n.530+43del
ENST00000296271.3:c.530+43del ENSP00000296271.3:n.530+43del
NM_000539.3:c.530+43del MANE Select NP_000530.1:n.530+43del