Canonical Allele Identifier: CA1401213215
Gene: RHO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533647_129533651delinsAACCC , CM000665.2:g.129533647_129533651delinsAACCC GRCh38
NC_000003.11:g.129252490_129252494delinsAACCC , CM000665.1:g.129252490_129252494delinsAACCC GRCh37
NC_000003.10:g.130735180_130735184delinsAACCC NCBI36
NG_009115.1:g.10009_10013delinsAACCC

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.976_980delinsAACCC MANE Select ENSP00000296271.3:p.Asn326=
ENST00000296271.3:c.976_980delinsAACCC ENSP00000296271.3:p.Asn326=
NM_000539.3:c.976_980delinsAACCC MANE Select NP_000530.1:p.Asn326=