Canonical Allele Identifier: CA2695218229

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304042del , CM000675.2:g.48304042del	GRCh38
NC_000013.10:g.48878178del , CM000675.1:g.48878178del	GRCh37
NC_000013.9:g.47776179del	NCBI36
NG_009009.1:g.5296del , LRG_517:g.5296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.130del MANE Select	ENSP00000267163.4:p.Leu44SerfsTer21
ENST00000646097.1:c.130del	ENSP00000496556.1:p.Leu44SerfsTer21
ENST00000650461.1:c.130del	ENSP00000497193.1:p.Leu44SerfsTer21
ENST00000267163.4:c.130del	ENSP00000267163.4:p.Leu44SerfsTer21
ENST00000467505.5:c.130del	ENSP00000434702.1:p.Leu44SerfsTer?
ENST00000525036.1:n.292del
NM_000321.2:c.130del , LRG_517t1:c.130del	NP_000312.2:p.Leu44SerfsTer21
NM_000321.3:c.130del MANE Select	NP_000312.2:p.Leu44SerfsTer21