Canonical Allele Identifier: CA1139768307

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48459760_48459763dup , CM000675.2:g.48459760_48459763dup	GRCh38
NC_000013.10:g.49033896_49033899dup , CM000675.1:g.49033896_49033899dup	GRCh37
NC_000013.9:g.47931897_47931900dup	NCBI36
NG_009009.1:g.161014_161017dup , LRG_517:g.161014_161017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.2033_2036dup MANE Select	ENSP00000267163.4:p.Ile680TyrfsTer13
ENST00000643064.1:c.194+78317_194+78320dup
ENST00000650461.1:c.2033_2036dup	ENSP00000497193.1:p.Ile680TyrfsTer13
ENST00000267163.4:c.2033_2036dup	ENSP00000267163.4:p.Ile680TyrfsTer13
NM_000321.2:c.2033_2036dup , LRG_517t1:c.2033_2036dup	NP_000312.2:p.Ile680TyrfsTer13
XM_011535171.1:c.1772_1775dup	XP_011533473.1:p.Ile593TyrfsTer13
XM_011535171.2:c.1772_1775dup	XP_011533473.1:p.Ile593TyrfsTer13
NM_000321.3:c.2033_2036dup MANE Select	NP_000312.2:p.Ile680TyrfsTer13