Canonical Allele Identifier: CA2695218221
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303996del , CM000675.2:g.48303996del GRCh38
NC_000013.10:g.48878132del , CM000675.1:g.48878132del GRCh37
NC_000013.9:g.47776133del NCBI36
NG_009009.1:g.5250del , LRG_517:g.5250del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.84del MANE Select ENSP00000267163.4:p.Pro29LeufsTer?
ENST00000646097.1:c.84del ENSP00000496556.1:p.Pro29LeufsTer?
ENST00000650461.1:c.84del ENSP00000497193.1:p.Pro29LeufsTer?
ENST00000267163.4:c.84del ENSP00000267163.4:p.Pro29LeufsTer?
ENST00000467505.5:c.84del ENSP00000434702.1:p.Pro29LeufsTer?
ENST00000525036.1:n.246del
NM_000321.2:c.84del , LRG_517t1:c.84del NP_000312.2:p.Pro29LeufsTer?
NM_000321.3:c.84del MANE Select NP_000312.2:p.Pro29LeufsTer?