Canonical Allele Identifier: CA645578616

Gene: RB1

Linked Data

• ClinVar Variation Id: 1459068
• ClinVar RCV Id: RCV001949654
• dbSNP Id: rs2138093700
• COSMIC: COSM5682401 ; COSM5682402

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48349012del , CM000675.2:g.48349012del	GRCh38
NC_000013.10:g.48923148del , CM000675.1:g.48923148del	GRCh37
NC_000013.9:g.47821149del	NCBI36
NG_009009.1:g.50266del , LRG_517:g.50266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.596del MANE Select	ENSP00000267163.4:p.Leu199TyrfsTer2
ENST00000650461.1:c.596del	ENSP00000497193.1:p.Leu199TyrfsTer2
ENST00000267163.4:c.596del	ENSP00000267163.4:p.Leu199TyrfsTer2
ENST00000467505.5:c.138-11005del	ENSP00000434702.1:n.138-11005del
ENST00000525036.1:n.758del
NM_000321.2:c.596del , LRG_517t1:c.596del	NP_000312.2:p.Leu199TyrfsTer2
XM_011535171.1:c.335del	XP_011533473.1:p.Leu112TyrfsTer2
XM_011535171.2:c.335del	XP_011533473.1:p.Leu112TyrfsTer2
NM_000321.3:c.596del MANE Select	NP_000312.2:p.Leu199TyrfsTer2