Canonical Allele Identifier: CA645571607

Gene: RB1

Linked Data

• COSMIC: COSM5586383 ; COSM5586384

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48456339_48456348del , CM000675.2:g.48456339_48456348del	GRCh38
NC_000013.10:g.49030475_49030484del , CM000675.1:g.49030475_49030484del	GRCh37
NC_000013.9:g.47928476_47928485del	NCBI36
NG_009009.1:g.157593_157602del , LRG_517:g.157593_157602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1950_1959del MANE Select	ENSP00000267163.4:p.Phe650LeufsTer5
ENST00000643064.1:c.194+74896_194+74905del
ENST00000650461.1:c.1950_1959del	ENSP00000497193.1:p.Phe650LeufsTer5
ENST00000267163.4:c.1950_1959del	ENSP00000267163.4:p.Phe650LeufsTer5
NM_000321.2:c.1950_1959del , LRG_517t1:c.1950_1959del	NP_000312.2:p.Phe650LeufsTer5
XM_011535171.1:c.1689_1698del	XP_011533473.1:p.Phe563LeufsTer5
XM_011535171.2:c.1689_1698del	XP_011533473.1:p.Phe563LeufsTer5
NM_000321.3:c.1950_1959del MANE Select	NP_000312.2:p.Phe650LeufsTer5