Canonical Allele Identifier: CA1401205643
Gene: RHO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528948_129528951delinsTCAA , CM000665.2:g.129528948_129528951delinsTCAA GRCh38
NC_000003.11:g.129247791_129247794delinsTCAA , CM000665.1:g.129247791_129247794delinsTCAA GRCh37
NC_000003.10:g.130730481_130730484delinsTCAA NCBI36
NG_009115.1:g.5310_5313delinsTCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.215_218delinsTCAA MANE Select ENSP00000296271.3:p.Leu72=
ENST00000296271.3:c.215_218delinsTCAA ENSP00000296271.3:p.Leu72=
NM_000539.3:c.215_218delinsTCAA MANE Select NP_000530.1:p.Leu72=