Canonical Allele Identifier: CA2579758043
Gene: RHO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533653del , CM000665.2:g.129533653del GRCh38
NC_000003.11:g.129252496del , CM000665.1:g.129252496del GRCh37
NC_000003.10:g.130735186del NCBI36
NG_009115.1:g.10015del

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.982del MANE Select ENSP00000296271.3:p.Leu328TrpfsTer?
ENST00000296271.3:c.982del ENSP00000296271.3:p.Leu328TrpfsTer?
NM_000539.3:c.982del MANE Select NP_000530.1:p.Leu328TrpfsTer?