Canonical Allele Identifier: CA2695218604

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48465022_48465023del , CM000675.2:g.48465022_48465023del	GRCh38
NC_000013.10:g.49039158_49039159del , CM000675.1:g.49039158_49039159del	GRCh37
NC_000013.9:g.47937159_47937160del	NCBI36
NG_009009.1:g.166276_166277del , LRG_517:g.166276_166277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2236_2237del MANE Select	ENSP00000267163.4:p.Glu746ArgfsTer4
ENST00000643064.1:c.194+83579_194+83580del
ENST00000650461.1:c.2236_2237del	ENSP00000497193.1:p.Glu746ArgfsTer4
ENST00000267163.4:c.2236_2237del	ENSP00000267163.4:p.Glu746ArgfsTer4
NM_000321.2:c.2236_2237del , LRG_517t1:c.2236_2237del	NP_000312.2:p.Glu746ArgfsTer4
XM_011535171.1:c.1975_1976del	XP_011533473.1:p.Glu659ArgfsTer4
XM_011535171.2:c.1975_1976del	XP_011533473.1:p.Glu659ArgfsTer4
NM_000321.3:c.2236_2237del MANE Select	NP_000312.2:p.Glu746ArgfsTer4