Canonical Allele Identifier: CA698657204

Gene: RB1

Linked Data

• dbSNP Id: rs1244334808
• MyVariant Identifiers: chr13:g.48878322_48878326del (hg19) ; chr13:g.48304186_48304190del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304188_48304192del , CM000675.2:g.48304188_48304192del	GRCh38
NC_000013.10:g.48878324_48878328del , CM000675.1:g.48878324_48878328del	GRCh37
NC_000013.9:g.47776325_47776329del	NCBI36
NG_009009.1:g.5442_5446del , LRG_517:g.5442_5446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.137+139_137+143del MANE Select	ENSP00000267163.4:n.137+139_137+143del
ENST00000646097.1:c.137+139_137+143del	ENSP00000496556.1:n.137+139_137+143del
ENST00000650461.1:c.137+139_137+143del	ENSP00000497193.1:n.137+139_137+143del
ENST00000267163.4:c.137+139_137+143del	ENSP00000267163.4:n.137+139_137+143del
ENST00000467505.5:c.137+139_137+143del	ENSP00000434702.1:n.137+139_137+143del
ENST00000525036.1:n.299+139_299+143del
NM_000321.2:c.137+139_137+143del , LRG_517t1:c.137+139_137+143del	NP_000312.2:n.137+139_137+143del
NM_000321.3:c.137+139_137+143del MANE Select	NP_000312.2:n.137+139_137+143del