Canonical Allele Identifier: CA2580614816

Gene: RB1

Linked Data

• ClinVar Variation Id: 1999634
• ClinVar RCV Id: RCV002819746

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304043_48304044del , CM000675.2:g.48304043_48304044del	GRCh38
NC_000013.10:g.48878179_48878180del , CM000675.1:g.48878179_48878180del	GRCh37
NC_000013.9:g.47776180_47776181del	NCBI36
NG_009009.1:g.5297_5298del , LRG_517:g.5297_5298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.131_132del MANE Select	ENSP00000267163.4:p.Leu44ArgfsTer4
ENST00000646097.1:c.131_132del	ENSP00000496556.1:p.Leu44ArgfsTer4
ENST00000650461.1:c.131_132del	ENSP00000497193.1:p.Leu44ArgfsTer4
ENST00000267163.4:c.131_132del	ENSP00000267163.4:p.Leu44ArgfsTer4
ENST00000467505.5:c.131_132del	ENSP00000434702.1:p.Leu44ArgfsTer13
ENST00000525036.1:n.293_294del
NM_000321.2:c.131_132del , LRG_517t1:c.131_132del	NP_000312.2:p.Leu44ArgfsTer4
NM_000321.3:c.131_132del MANE Select	NP_000312.2:p.Leu44ArgfsTer4