Canonical Allele Identifier: CA658656368

Gene: RB1

Linked Data

• ClinVar Variation Id: 458123
• ClinVar RCV Id: RCV000535718
• dbSNP Id: rs1555286611
• MyVariant Identifiers: chr13:g.48954337del (hg19) ; chr13:g.48380201del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380201del , CM000675.2:g.48380201del	GRCh38
NC_000013.10:g.48954337del , CM000675.1:g.48954337del	GRCh37
NC_000013.9:g.47852338del	NCBI36
NG_009009.1:g.81455del , LRG_517:g.81455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1458del MANE Select	ENSP00000267163.4:p.Leu486PhefsTer9
ENST00000650461.1:c.1458del	ENSP00000497193.1:p.Leu486PhefsTer9
ENST00000267163.4:c.1458del	ENSP00000267163.4:p.Leu486PhefsTer9
NM_000321.2:c.1458del , LRG_517t1:c.1458del	NP_000312.2:p.Leu486PhefsTer9
XM_011535171.1:c.1197del	XP_011533473.1:p.Leu399PhefsTer9
XM_011535171.2:c.1197del	XP_011533473.1:p.Leu399PhefsTer9
NM_000321.3:c.1458del MANE Select	NP_000312.2:p.Leu486PhefsTer9