Canonical Allele Identifier: CA2831039886

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476705_48476706dup , CM000675.2:g.48476705_48476706dup	GRCh38
NC_000013.10:g.49050841_49050842dup , CM000675.1:g.49050841_49050842dup	GRCh37
NC_000013.9:g.47948842_47948843dup	NCBI36
NG_009009.1:g.177959_177960dup , LRG_517:g.177959_177960dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2525_2526dup MANE Select	ENSP00000267163.4:p.Glu843LeufsTer7
ENST00000643064.1:c.194+95262_194+95263dup
ENST00000650461.1:c.2525_2526dup	ENSP00000497193.1:p.Glu843LeufsTer7
ENST00000267163.4:c.2525_2526dup	ENSP00000267163.4:p.Glu843LeufsTer7
ENST00000484879.1:n.259_260dup
ENST00000531171.5:n.128_129dup
NM_000321.2:c.2525_2526dup , LRG_517t1:c.2525_2526dup	NP_000312.2:p.Glu843LeufsTer7
XM_011535171.1:c.2264_2265dup	XP_011533473.1:p.Glu756LeufsTer7
XM_011535171.2:c.2264_2265dup	XP_011533473.1:p.Glu756LeufsTer7
NM_000321.3:c.2525_2526dup MANE Select	NP_000312.2:p.Glu843LeufsTer7