Canonical Allele Identifier: CA915940682

Gene: RB1

Linked Data

• ClinVar Variation Id: 1686121
• ClinVar RCV Id: RCV002250288
• dbSNP Id: rs2138335833

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459697dup , CM000675.2:g.48459697dup	GRCh38
NC_000013.10:g.49033833dup , CM000675.1:g.49033833dup	GRCh37
NC_000013.9:g.47931834dup	NCBI36
NG_009009.1:g.160951dup , LRG_517:g.160951dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1970dup MANE Select	ENSP00000267163.4:p.Ala658SerfsTer10
ENST00000643064.1:c.194+78254dup
ENST00000650461.1:c.1970dup	ENSP00000497193.1:p.Ala658SerfsTer10
ENST00000267163.4:c.1970dup	ENSP00000267163.4:p.Ala658SerfsTer10
NM_000321.2:c.1970dup , LRG_517t1:c.1970dup	NP_000312.2:p.Ala658SerfsTer10
XM_011535171.1:c.1709dup	XP_011533473.1:p.Ala571SerfsTer10
XM_011535171.2:c.1709dup	XP_011533473.1:p.Ala571SerfsTer10
NM_000321.3:c.1970dup MANE Select	NP_000312.2:p.Ala658SerfsTer10