Canonical Allele Identifier: CA10605366

Gene: RB1

Linked Data

• ClinVar Variation Id: 286124
• ClinVar RCV Id: RCV000402085
• dbSNP Id: rs886043313
• MyVariant Identifiers: chr13:g.48919231del (hg19) ; chr13:g.48345095del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48345095del , CM000675.2:g.48345095del	GRCh38
NC_000013.10:g.48919231del , CM000675.1:g.48919231del	GRCh37
NC_000013.9:g.47817232del	NCBI36
NG_009009.1:g.46349del , LRG_517:g.46349del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.396del MANE Select	ENSP00000267163.4:p.Phe132LeufsTer4
ENST00000650461.1:c.396del	ENSP00000497193.1:p.Phe132LeufsTer4
ENST00000267163.4:c.396del	ENSP00000267163.4:p.Phe132LeufsTer4
ENST00000467505.5:c.138-14922del	ENSP00000434702.1:n.138-14922del
ENST00000525036.1:n.558del
NM_000321.2:c.396del , LRG_517t1:c.396del	NP_000312.2:p.Phe132LeufsTer4
XM_011535171.1:c.135del	XP_011533473.1:p.Phe45LeufsTer4
XM_011535171.2:c.135del	XP_011533473.1:p.Phe45LeufsTer4
NM_000321.3:c.396del MANE Select	NP_000312.2:p.Phe132LeufsTer4