Canonical Allele Identifier: CA2579758046
Gene: RHO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532336_129532344del , CM000665.2:g.129532336_129532344del GRCh38
NC_000003.11:g.129251179_129251187del , CM000665.1:g.129251179_129251187del GRCh37
NC_000003.10:g.130733869_130733877del NCBI36
NG_009115.1:g.8698_8706del

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.616_624del MANE Select ENSP00000296271.3:p.Tyr206_Phe208del
ENST00000296271.3:c.616_624del ENSP00000296271.3:p.Tyr206_Phe208del
NM_000539.3:c.616_624del MANE Select NP_000530.1:p.Tyr206_Phe208del