Canonical Allele Identifier: CA915948547
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 818546
ClinVar RCV Id: RCV001010236
dbSNP Id: rs1593412261
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304030del , CM000675.2:g.48304030del GRCh38
NC_000013.10:g.48878166del , CM000675.1:g.48878166del GRCh37
NC_000013.9:g.47776167del NCBI36
NG_009009.1:g.5284del , LRG_517:g.5284del

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.118del MANE Select ENSP00000267163.4:p.Glu40ArgfsTer25
ENST00000646097.1:c.118del ENSP00000496556.1:p.Glu40ArgfsTer25
ENST00000650461.1:c.118del ENSP00000497193.1:p.Glu40ArgfsTer25
ENST00000267163.4:c.118del ENSP00000267163.4:p.Glu40ArgfsTer25
ENST00000467505.5:c.118del ENSP00000434702.1:p.Glu40ArgfsTer?
ENST00000525036.1:n.280del
NM_000321.2:c.118del , LRG_517t1:c.118del NP_000312.2:p.Glu40ArgfsTer25
NM_000321.3:c.118del MANE Select NP_000312.2:p.Glu40ArgfsTer25
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Search 100 bp 3'