Canonical Allele Identifier: CA2695218475

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380200_48380203del , CM000675.2:g.48380200_48380203del	GRCh38
NC_000013.10:g.48954336_48954339del , CM000675.1:g.48954336_48954339del	GRCh37
NC_000013.9:g.47852337_47852340del	NCBI36
NG_009009.1:g.81454_81457del , LRG_517:g.81454_81457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1457_1460del MANE Select	ENSP00000267163.4:p.Leu486TrpfsTer8
ENST00000650461.1:c.1457_1460del	ENSP00000497193.1:p.Leu486TrpfsTer8
ENST00000267163.4:c.1457_1460del	ENSP00000267163.4:p.Leu486TrpfsTer8
NM_000321.2:c.1457_1460del , LRG_517t1:c.1457_1460del	NP_000312.2:p.Leu486TrpfsTer8
XM_011535171.1:c.1196_1199del	XP_011533473.1:p.Leu399TrpfsTer8
XM_011535171.2:c.1196_1199del	XP_011533473.1:p.Leu399TrpfsTer8
NM_000321.3:c.1457_1460del MANE Select	NP_000312.2:p.Leu486TrpfsTer8