Canonical Allele Identifier: CA2089972480

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381376_48381378delinsCAA , CM000675.2:g.48381376_48381378delinsCAA	GRCh38
NC_000013.10:g.48955512_48955514delinsCAA , CM000675.1:g.48955512_48955514delinsCAA	GRCh37
NC_000013.9:g.47853513_47853515delinsCAA	NCBI36
NG_009009.1:g.82630_82632delinsCAA , LRG_517:g.82630_82632delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1628_1630delinsCAA MANE Select	ENSP00000267163.4:p.Thr543=
ENST00000643064.1:c.127_129delinsCAA
ENST00000650461.1:c.1628_1630delinsCAA	ENSP00000497193.1:p.Thr543=
ENST00000267163.4:c.1628_1630delinsCAA	ENSP00000267163.4:p.Thr543=
NM_000321.2:c.1628_1630delinsCAA , LRG_517t1:c.1628_1630delinsCAA	NP_000312.2:p.Thr543=
XM_011535171.1:c.1367_1369delinsCAA	XP_011533473.1:p.Thr456=
XM_011535171.2:c.1367_1369delinsCAA	XP_011533473.1:p.Thr456=
NM_000321.3:c.1628_1630delinsCAA MANE Select	NP_000312.2:p.Thr543=