Canonical Allele Identifier: CA2089950512
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304080_48304081delinsCG , CM000675.2:g.48304080_48304081delinsCG GRCh38
NC_000013.10:g.48878216_48878217delinsCG , CM000675.1:g.48878216_48878217delinsCG GRCh37
NC_000013.9:g.47776217_47776218delinsCG NCBI36
NG_009009.1:g.5334_5335delinsCG , LRG_517:g.5334_5335delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137+31_137+32delinsCG MANE Select ENSP00000267163.4:n.137+31_137+32delinsCG
ENST00000646097.1:c.137+31_137+32delinsCG ENSP00000496556.1:n.137+31_137+32delinsCG
ENST00000650461.1:c.137+31_137+32delinsCG ENSP00000497193.1:n.137+31_137+32delinsCG
ENST00000267163.4:c.137+31_137+32delinsCG ENSP00000267163.4:n.137+31_137+32delinsCG
ENST00000467505.5:c.137+31_137+32delinsCG ENSP00000434702.1:n.137+31_137+32delinsCG
ENST00000525036.1:n.299+31_299+32delinsCG
NM_000321.2:c.137+31_137+32delinsCG , LRG_517t1:c.137+31_137+32delinsCG NP_000312.2:n.137+31_137+32delinsCG
NM_000321.3:c.137+31_137+32delinsCG MANE Select NP_000312.2:n.137+31_137+32delinsCG