Canonical Allele Identifier: CA2695218215

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303958_48303977dup , CM000675.2:g.48303958_48303977dup	GRCh38
NC_000013.10:g.48878094_48878113dup , CM000675.1:g.48878094_48878113dup	GRCh37
NC_000013.9:g.47776095_47776114dup	NCBI36
NG_009009.1:g.5212_5231dup , LRG_517:g.5212_5231dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.46_65dup MANE Select	ENSP00000267163.4:p.Pro25ArgfsTer?
ENST00000646097.1:c.46_65dup	ENSP00000496556.1:p.Pro25ArgfsTer?
ENST00000650461.1:c.46_65dup	ENSP00000497193.1:p.Pro25ArgfsTer?
ENST00000267163.4:c.46_65dup	ENSP00000267163.4:p.Pro25ArgfsTer?
ENST00000467505.5:c.46_65dup	ENSP00000434702.1:p.Pro25ArgfsTer?
ENST00000525036.1:n.208_227dup
NM_000321.2:c.46_65dup , LRG_517t1:c.46_65dup	NP_000312.2:p.Pro25ArgfsTer?
NM_000321.3:c.46_65dup MANE Select	NP_000312.2:p.Pro25ArgfsTer?