Canonical Allele Identifier: CA2728043574

Gene: RB1

Linked Data

• dbSNP Id: rs2138142088

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380030_48380031insCT , CM000675.2:g.48380030_48380031insCT	GRCh38
NC_000013.10:g.48954166_48954167insCT , CM000675.1:g.48954166_48954167insCT	GRCh37
NC_000013.9:g.47852167_47852168insCT	NCBI36
NG_009009.1:g.81284_81285insCT , LRG_517:g.81284_81285insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1390-23_1390-22insCT MANE Select	ENSP00000267163.4:n.1390-23_1390-22insCT
ENST00000650461.1:c.1390-23_1390-22insCT	ENSP00000497193.1:n.1390-23_1390-22insCT
ENST00000267163.4:c.1390-23_1390-22insCT	ENSP00000267163.4:n.1390-23_1390-22insCT
NM_000321.2:c.1390-23_1390-22insCT , LRG_517t1:c.1390-23_1390-22insCT	NP_000312.2:n.1390-23_1390-22insCT
XM_011535171.1:c.1129-23_1129-22insCT	XP_011533473.1:n.1129-23_1129-22insCT
XM_011535171.2:c.1129-23_1129-22insCT	XP_011533473.1:n.1129-23_1129-22insCT
NM_000321.3:c.1390-23_1390-22insCT MANE Select	NP_000312.2:n.1390-23_1390-22insCT