Canonical Allele Identifier: CA2089972458

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48348964_48348965delinsCT , CM000675.2:g.48348964_48348965delinsCT	GRCh38
NC_000013.10:g.48923100_48923101delinsCT , CM000675.1:g.48923100_48923101delinsCT	GRCh37
NC_000013.9:g.47821101_47821102delinsCT	NCBI36
NG_009009.1:g.50218_50219delinsCT , LRG_517:g.50218_50219delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.548_549delinsCT MANE Select	ENSP00000267163.4:p.Thr183=
ENST00000650461.1:c.548_549delinsCT	ENSP00000497193.1:p.Thr183=
ENST00000267163.4:c.548_549delinsCT	ENSP00000267163.4:p.Thr183=
ENST00000467505.5:c.138-11053_138-11052delinsCT	ENSP00000434702.1:n.138-11053_138-11052delinsCT
ENST00000525036.1:n.710_711delinsCT
NM_000321.2:c.548_549delinsCT , LRG_517t1:c.548_549delinsCT	NP_000312.2:p.Thr183=
XM_011535171.1:c.287_288delinsCT	XP_011533473.1:p.Thr96=
XM_011535171.2:c.287_288delinsCT	XP_011533473.1:p.Thr96=
NM_000321.3:c.548_549delinsCT MANE Select	NP_000312.2:p.Thr183=