Canonical Allele Identifier: CA2695218595

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476735dup , CM000675.2:g.48476735dup	GRCh38
NC_000013.10:g.49050871dup , CM000675.1:g.49050871dup	GRCh37
NC_000013.9:g.47948872dup	NCBI36
NG_009009.1:g.177989dup , LRG_517:g.177989dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2555dup MANE Select	ENSP00000267163.4:p.Cys853MetfsTer2
ENST00000643064.1:c.194+95292dup
ENST00000650461.1:c.2555dup	ENSP00000497193.1:p.Cys853MetfsTer2
ENST00000267163.4:c.2555dup	ENSP00000267163.4:p.Cys853MetfsTer2
ENST00000484879.1:n.289dup
ENST00000531171.5:n.158dup
NM_000321.2:c.2555dup , LRG_517t1:c.2555dup	NP_000312.2:p.Cys853MetfsTer2
XM_011535171.1:c.2294dup	XP_011533473.1:p.Cys766MetfsTer2
XM_011535171.2:c.2294dup	XP_011533473.1:p.Cys766MetfsTer2
NM_000321.3:c.2555dup MANE Select	NP_000312.2:p.Cys853MetfsTer2