Canonical Allele Identifier: CA1401204961
Gene: RHO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528766_129528767delinsGC , CM000665.2:g.129528766_129528767delinsGC GRCh38
NC_000003.11:g.129247609_129247610delinsGC , CM000665.1:g.129247609_129247610delinsGC GRCh37
NC_000003.10:g.130730299_130730300delinsGC NCBI36
NG_009115.1:g.5128_5129delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.33_34delinsGC MANE Select ENSP00000296271.3:p.Val11=
ENST00000296271.3:c.33_34delinsGC ENSP00000296271.3:p.Val11=
NM_000539.3:c.33_34delinsGC MANE Select NP_000530.1:p.Val11=