Canonical Allele Identifier: CA2089950311
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304016_48304017delinsAG , CM000675.2:g.48304016_48304017delinsAG GRCh38
NC_000013.10:g.48878152_48878153delinsAG , CM000675.1:g.48878152_48878153delinsAG GRCh37
NC_000013.9:g.47776153_47776154delinsAG NCBI36
NG_009009.1:g.5270_5271delinsAG , LRG_517:g.5270_5271delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.104_105delinsAG MANE Select ENSP00000267163.4:p.Gln35=
ENST00000646097.1:c.104_105delinsAG ENSP00000496556.1:p.Gln35=
ENST00000650461.1:c.104_105delinsAG ENSP00000497193.1:p.Gln35=
ENST00000267163.4:c.104_105delinsAG ENSP00000267163.4:p.Gln35=
ENST00000467505.5:c.104_105delinsAG ENSP00000434702.1:p.Gln35=
ENST00000525036.1:n.266_267delinsAG
NM_000321.2:c.104_105delinsAG , LRG_517t1:c.104_105delinsAG NP_000312.2:p.Gln35=
NM_000321.3:c.104_105delinsAG MANE Select NP_000312.2:p.Gln35=