Canonical Allele Identifier: CA2089950504
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304077_48304078delinsAC , CM000675.2:g.48304077_48304078delinsAC GRCh38
NC_000013.10:g.48878213_48878214delinsAC , CM000675.1:g.48878213_48878214delinsAC GRCh37
NC_000013.9:g.47776214_47776215delinsAC NCBI36
NG_009009.1:g.5331_5332delinsAC , LRG_517:g.5331_5332delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.137+28_137+29delinsAC MANE Select ENSP00000267163.4:n.137+28_137+29delinsAC
ENST00000646097.1:c.137+28_137+29delinsAC ENSP00000496556.1:n.137+28_137+29delinsAC
ENST00000650461.1:c.137+28_137+29delinsAC ENSP00000497193.1:n.137+28_137+29delinsAC
ENST00000267163.4:c.137+28_137+29delinsAC ENSP00000267163.4:n.137+28_137+29delinsAC
ENST00000467505.5:c.137+28_137+29delinsAC ENSP00000434702.1:n.137+28_137+29delinsAC
ENST00000525036.1:n.299+28_299+29delinsAC
NM_000321.2:c.137+28_137+29delinsAC , LRG_517t1:c.137+28_137+29delinsAC NP_000312.2:n.137+28_137+29delinsAC
NM_000321.3:c.137+28_137+29delinsAC MANE Select NP_000312.2:n.137+28_137+29delinsAC