Canonical Allele Identifier: CA658658234

Gene: RB1

Linked Data

• ClinVar Variation Id: 458171
• ClinVar RCV Id: RCV000553322
• dbSNP Id: rs1555279212
• MyVariant Identifiers: chr13:g.48878102_48878121dup (hg19) ; chr13:g.48303966_48303985dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303966_48303985dup , CM000675.2:g.48303966_48303985dup	GRCh38
NC_000013.10:g.48878102_48878121dup , CM000675.1:g.48878102_48878121dup	GRCh37
NC_000013.9:g.47776103_47776122dup	NCBI36
NG_009009.1:g.5220_5239dup , LRG_517:g.5220_5239dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.54_73dup MANE Select	ENSP00000267163.4:p.Pro25ArgfsTer?
ENST00000646097.1:c.54_73dup	ENSP00000496556.1:p.Pro25ArgfsTer?
ENST00000650461.1:c.54_73dup	ENSP00000497193.1:p.Pro25ArgfsTer?
ENST00000267163.4:c.54_73dup	ENSP00000267163.4:p.Pro25ArgfsTer?
ENST00000467505.5:c.54_73dup	ENSP00000434702.1:p.Pro25ArgfsTer?
ENST00000525036.1:n.216_235dup
NM_000321.2:c.54_73dup , LRG_517t1:c.54_73dup	NP_000312.2:p.Pro25ArgfsTer?
NM_000321.3:c.54_73dup MANE Select	NP_000312.2:p.Pro25ArgfsTer?