Canonical Allele Identifier: CA915940714

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303932dup , CM000675.2:g.48303932dup	GRCh38
NC_000013.10:g.48878068dup , CM000675.1:g.48878068dup	GRCh37
NC_000013.9:g.47776069dup	NCBI36
NG_009009.1:g.5186dup , LRG_517:g.5186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.20dup MANE Select	ENSP00000267163.4:p.Thr9AsnfsTer22
ENST00000646097.1:c.20dup	ENSP00000496556.1:p.Thr9AsnfsTer22
ENST00000650461.1:c.20dup	ENSP00000497193.1:p.Thr9AsnfsTer22
ENST00000267163.4:c.20dup	ENSP00000267163.4:p.Thr9AsnfsTer22
ENST00000467505.5:c.20dup	ENSP00000434702.1:p.Thr9AsnfsTer22
ENST00000525036.1:n.182dup
NM_000321.2:c.20dup , LRG_517t1:c.20dup	NP_000312.2:p.Thr9AsnfsTer22
NM_000321.3:c.20dup MANE Select	NP_000312.2:p.Thr9AsnfsTer22