Canonical Allele Identifier: CA915948545

Gene: RB1

Linked Data

• ClinVar Variation Id: 659361
• ClinVar RCV Id: RCV000816353
• dbSNP Id: rs1593412002
• gnomAD v4: 13-48303944-CCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303957_48303988del , CM000675.2:g.48303957_48303988del	GRCh38
NC_000013.10:g.48878093_48878124del , CM000675.1:g.48878093_48878124del	GRCh37
NC_000013.9:g.47776094_47776125del	NCBI36
NG_009009.1:g.5211_5242del , LRG_517:g.5211_5242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.45_76del MANE Select	ENSP00000267163.4:p.Ala17ProfsTer3
ENST00000646097.1:c.45_76del	ENSP00000496556.1:p.Ala17ProfsTer3
ENST00000650461.1:c.45_76del	ENSP00000497193.1:p.Ala17ProfsTer3
ENST00000267163.4:c.45_76del	ENSP00000267163.4:p.Ala17ProfsTer3
ENST00000467505.5:c.45_76del	ENSP00000434702.1:p.Ala17ProfsTer3
ENST00000525036.1:n.207_238del
NM_000321.2:c.45_76del , LRG_517t1:c.45_76del	NP_000312.2:p.Ala17ProfsTer3
NM_000321.3:c.45_76del MANE Select	NP_000312.2:p.Ala17ProfsTer3