Canonical Allele Identifier: CA2569537985
Gene: RHO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528894_129528895insA , CM000665.2:g.129528894_129528895insA GRCh38
NC_000003.11:g.129247737_129247738insA , CM000665.1:g.129247737_129247738insA GRCh37
NC_000003.10:g.130730427_130730428insA NCBI36
NG_009115.1:g.5256_5257insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.161_162insA MANE Select ENSP00000296271.3:p.Asn55GlnfsTer29
ENST00000296271.3:c.161_162insA ENSP00000296271.3:p.Asn55GlnfsTer29
NM_000539.3:c.161_162insA MANE Select NP_000530.1:p.Asn55GlnfsTer29