Canonical Allele Identifier: CA645559020

Gene: PTEN

Linked Data

• COSMIC: COSM921066

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894081_87894084dup , CM000672.2:g.87894081_87894084dup	GRCh38
NC_000010.10:g.89653838_89653841dup , CM000672.1:g.89653838_89653841dup	GRCh37
NC_000010.9:g.89643818_89643821dup	NCBI36
NG_007466.2:g.35643_35646dup , LRG_311:g.35643_35646dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.136_139dup	ENSP00000514759.2:p.Arg47IlefsTer6
ENST00000710265.1:c.136_139dup	ENSP00000518161.1:p.Arg47IlefsTer6
ENST00000472832.3:c.136_139dup	ENSP00000483066.2:p.Arg47IlefsTer6
ENST00000688158.2:n.899+13643_899+13646dup
ENST00000688922.2:c.136_139dup	ENSP00000508742.2:p.Arg47IlefsTer6
ENST00000700021.1:c.136_139dup	ENSP00000514757.1:p.Arg47IlefsTer6
ENST00000700022.1:c.136_139dup	ENSP00000514758.1:p.Arg47IlefsTer6
ENST00000706954.1:c.136_139dup	ENSP00000516674.1:p.Arg47IlefsTer6
ENST00000706955.1:c.*171_*174dup	ENSP00000516675.1:n.*171_*174dup
ENST00000686459.1:c.136_139dup	ENSP00000508909.1:p.Arg47IlefsTer6
ENST00000688158.1:c.*275+13643_*275+13646dup	ENSP00000509254.1:n.*275+13643_*275+13646dup
ENST00000688308.1:c.136_139dup	ENSP00000508752.1:p.Arg47IlefsTer6
ENST00000688922.1:c.5_8dup
ENST00000693560.1:c.655_658dup	ENSP00000509861.1:p.Arg220IlefsTer6
ENST00000371953.8:c.136_139dup MANE Select	ENSP00000361021.3:p.Arg47IlefsTer6
ENST00000371953.7:c.136_139dup	ENSP00000361021.3:p.Arg47IlefsTer6
ENST00000462694.1:n.138_141dup
ENST00000610634.1:c.34_37dup	ENSP00000477517.1:p.Arg13IlefsTer6
NM_000314.5:c.136_139dup	NP_000305.3:p.Arg47IlefsTer6
NM_000314.6:c.136_139dup	NP_000305.3:p.Arg47IlefsTer6
NM_001304717.2:c.655_658dup	NP_001291646.2:p.Arg220IlefsTer6
NM_001304718.1:c.-570_-567dup	NP_001291647.1:n.-570_-567dup
XM_006717926.2:c.136_139dup	XP_006717989.1:p.Arg47IlefsTer6
XM_011539981.1:c.136_139dup	XP_011538283.1:p.Arg47IlefsTer6
XM_011539982.1:c.68+13643_68+13646dup	XP_011538284.1:n.68+13643_68+13646dup
XR_945789.1:n.848_851dup
XR_945790.1:n.848_851dup
XR_945791.1:n.848_851dup
NM_000314.7:c.136_139dup	NP_000305.3:p.Arg47IlefsTer6
NM_001304717.5:c.655_658dup	NP_001291646.4:p.Arg220IlefsTer6
NM_001304718.2:c.-570_-567dup	NP_001291647.1:n.-570_-567dup
NM_000314.8:c.136_139dup MANE Select	NP_000305.3:p.Arg47IlefsTer6