Canonical Allele Identifier: CA645369601

Gene: RB1

Linked Data

• ClinVar Variation Id: 428668
• ClinVar RCV Id: RCV000492663 ; RCV000697493
• dbSNP Id: rs1555279210
• MyVariant Identifiers: chr13:g.48878102_48878124dup (hg19) ; chr13:g.48303966_48303988dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303966_48303988dup , CM000675.2:g.48303966_48303988dup	GRCh38
NC_000013.10:g.48878102_48878124dup , CM000675.1:g.48878102_48878124dup	GRCh37
NC_000013.9:g.47776103_47776125dup	NCBI36
NG_009009.1:g.5220_5242dup , LRG_517:g.5220_5242dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.54_76dup MANE Select	ENSP00000267163.4:p.Pro26ArgfsTer?
ENST00000646097.1:c.54_76dup	ENSP00000496556.1:p.Pro26ArgfsTer?
ENST00000650461.1:c.54_76dup	ENSP00000497193.1:p.Pro26ArgfsTer?
ENST00000267163.4:c.54_76dup	ENSP00000267163.4:p.Pro26ArgfsTer?
ENST00000467505.5:c.54_76dup	ENSP00000434702.1:p.Pro26ArgfsTer?
ENST00000525036.1:n.216_238dup
NM_000321.2:c.54_76dup , LRG_517t1:c.54_76dup	NP_000312.2:p.Pro26ArgfsTer?
NM_000321.3:c.54_76dup MANE Select	NP_000312.2:p.Pro26ArgfsTer?