Canonical Allele Identifier: CA2089971269

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380197_48380199delinsCTT , CM000675.2:g.48380197_48380199delinsCTT	GRCh38
NC_000013.10:g.48954333_48954335delinsCTT , CM000675.1:g.48954333_48954335delinsCTT	GRCh37
NC_000013.9:g.47852334_47852336delinsCTT	NCBI36
NG_009009.1:g.81451_81453delinsCTT , LRG_517:g.81451_81453delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1454_1456delinsCTT MANE Select	ENSP00000267163.4:p.Ser485=
ENST00000650461.1:c.1454_1456delinsCTT	ENSP00000497193.1:p.Ser485=
ENST00000267163.4:c.1454_1456delinsCTT	ENSP00000267163.4:p.Ser485=
NM_000321.2:c.1454_1456delinsCTT , LRG_517t1:c.1454_1456delinsCTT	NP_000312.2:p.Ser485=
XM_011535171.1:c.1193_1195delinsCTT	XP_011533473.1:p.Ser398=
XM_011535171.2:c.1193_1195delinsCTT	XP_011533473.1:p.Ser398=
NM_000321.3:c.1454_1456delinsCTT MANE Select	NP_000312.2:p.Ser485=