Canonical Allele Identifier: CA2580087718

Gene: RB1

Linked Data

• ClinVar Variation Id: 2450505
• ClinVar RCV Id: RCV003171434

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303952_48303953delinsCT , CM000675.2:g.48303952_48303953delinsCT	GRCh38
NC_000013.10:g.48878088_48878089delinsCT , CM000675.1:g.48878088_48878089delinsCT	GRCh37
NC_000013.9:g.47776089_47776090delinsCT	NCBI36
NG_009009.1:g.5206_5207delinsCT , LRG_517:g.5206_5207delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.40_41delinsCT MANE Select	ENSP00000267163.4:p.Ala14Leu
ENST00000646097.1:c.40_41delinsCT	ENSP00000496556.1:p.Ala14Leu
ENST00000650461.1:c.40_41delinsCT	ENSP00000497193.1:p.Ala14Leu
ENST00000267163.4:c.40_41delinsCT	ENSP00000267163.4:p.Ala14Leu
ENST00000467505.5:c.40_41delinsCT	ENSP00000434702.1:p.Ala14Leu
ENST00000525036.1:n.202_203delinsCT
NM_000321.2:c.40_41delinsCT , LRG_517t1:c.40_41delinsCT	NP_000312.2:p.Ala14Leu
NM_000321.3:c.40_41delinsCT MANE Select	NP_000312.2:p.Ala14Leu