Canonical Allele Identifier: CA2831039867

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380193_48380194dup , CM000675.2:g.48380193_48380194dup	GRCh38
NC_000013.10:g.48954329_48954330dup , CM000675.1:g.48954329_48954330dup	GRCh37
NC_000013.9:g.47852330_47852331dup	NCBI36
NG_009009.1:g.81447_81448dup , LRG_517:g.81447_81448dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1450_1451dup MANE Select	ENSP00000267163.4:p.Met484IlefsTer12
ENST00000650461.1:c.1450_1451dup	ENSP00000497193.1:p.Met484IlefsTer12
ENST00000267163.4:c.1450_1451dup	ENSP00000267163.4:p.Met484IlefsTer12
NM_000321.2:c.1450_1451dup , LRG_517t1:c.1450_1451dup	NP_000312.2:p.Met484IlefsTer12
XM_011535171.1:c.1189_1190dup	XP_011533473.1:p.Met397IlefsTer12
XM_011535171.2:c.1189_1190dup	XP_011533473.1:p.Met397IlefsTer12
NM_000321.3:c.1450_1451dup MANE Select	NP_000312.2:p.Met484IlefsTer12