Canonical Allele Identifier: CA2695218600

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48476762_48476763insT , CM000675.2:g.48476762_48476763insT	GRCh38
NC_000013.10:g.49050898_49050899insT , CM000675.1:g.49050898_49050899insT	GRCh37
NC_000013.9:g.47948899_47948900insT	NCBI36
NG_009009.1:g.178016_178017insT , LRG_517:g.178016_178017insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2582_2583insT MANE Select	ENSP00000267163.4:p.Arg861SerfsTer4
ENST00000643064.1:c.194+95319_194+95320insT
ENST00000650461.1:c.2582_2583insT	ENSP00000497193.1:p.Arg861SerfsTer4
ENST00000267163.4:c.2582_2583insT	ENSP00000267163.4:p.Arg861SerfsTer4
ENST00000484879.1:n.316_317insT
ENST00000531171.5:n.185_186insT
NM_000321.2:c.2582_2583insT , LRG_517t1:c.2582_2583insT	NP_000312.2:p.Arg861SerfsTer4
XM_011535171.1:c.2321_2322insT	XP_011533473.1:p.Arg774SerfsTer4
XM_011535171.2:c.2321_2322insT	XP_011533473.1:p.Arg774SerfsTer4
NM_000321.3:c.2582_2583insT MANE Select	NP_000312.2:p.Arg861SerfsTer4