Canonical Allele Identifier: CA2622981503

Gene: RB1

Linked Data

• dbSNP Id: rs11351399
• gnomAD v4: 13-48381183-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381190dup , CM000675.2:g.48381190dup	GRCh38
NC_000013.10:g.48955326dup , CM000675.1:g.48955326dup	GRCh37
NC_000013.9:g.47853327dup	NCBI36
NG_009009.1:g.82444dup , LRG_517:g.82444dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1499-57dup MANE Select	ENSP00000267163.4:n.1499-57dup
ENST00000650461.1:c.1499-57dup	ENSP00000497193.1:n.1499-57dup
ENST00000267163.4:c.1499-57dup	ENSP00000267163.4:n.1499-57dup
NM_000321.2:c.1499-57dup , LRG_517t1:c.1499-57dup	NP_000312.2:n.1499-57dup
XM_011535171.1:c.1238-57dup	XP_011533473.1:n.1238-57dup
XM_011535171.2:c.1238-57dup	XP_011533473.1:n.1238-57dup
NM_000321.3:c.1499-57dup MANE Select	NP_000312.2:n.1499-57dup