Canonical Allele Identifier: CA2695218630

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459723dup , CM000675.2:g.48459723dup	GRCh38
NC_000013.10:g.49033859dup , CM000675.1:g.49033859dup	GRCh37
NC_000013.9:g.47931860dup	NCBI36
NG_009009.1:g.160977dup , LRG_517:g.160977dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1996dup MANE Select	ENSP00000267163.4:p.Cys666LeufsTer2
ENST00000643064.1:c.194+78280dup
ENST00000650461.1:c.1996dup	ENSP00000497193.1:p.Cys666LeufsTer2
ENST00000267163.4:c.1996dup	ENSP00000267163.4:p.Cys666LeufsTer2
NM_000321.2:c.1996dup , LRG_517t1:c.1996dup	NP_000312.2:p.Cys666LeufsTer2
XM_011535171.1:c.1735dup	XP_011533473.1:p.Cys579LeufsTer2
XM_011535171.2:c.1735dup	XP_011533473.1:p.Cys579LeufsTer2
NM_000321.3:c.1996dup MANE Select	NP_000312.2:p.Cys666LeufsTer2