Canonical Allele Identifier: CA2573149568

Gene: RB1

Linked Data

• ClinVar Variation Id: 1598109
• ClinVar RCV Id: RCV002129458
• dbSNP Id: rs2138116175

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364875del , CM000675.2:g.48364875del	GRCh38
NC_000013.10:g.48939011del , CM000675.1:g.48939011del	GRCh37
NC_000013.9:g.47837012del	NCBI36
NG_009009.1:g.66129del , LRG_517:g.66129del

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.862-19del MANE Select	ENSP00000267163.4:n.862-19del
ENST00000650461.1:c.862-19del	ENSP00000497193.1:n.862-19del
ENST00000267163.4:c.862-19del	ENSP00000267163.4:n.862-19del
NM_000321.2:c.862-19del , LRG_517t1:c.862-19del	NP_000312.2:n.862-19del
XM_011535171.1:c.601-19del	XP_011533473.1:n.601-19del
XM_011535171.2:c.601-19del	XP_011533473.1:n.601-19del
NM_000321.3:c.862-19del MANE Select	NP_000312.2:n.862-19del