Canonical Allele Identifier: CA2697558616

Gene: PTEN

Linked Data

• ClinVar Variation Id: 2713846
• ClinVar RCV Id: RCV003510835

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961012_87961013dup , CM000672.2:g.87961012_87961013dup	GRCh38
NC_000010.10:g.89720769_89720770dup , CM000672.1:g.89720769_89720770dup	GRCh37
NC_000010.9:g.89710749_89710750dup	NCBI36
NG_007466.2:g.102574_102575dup , LRG_311:g.102574_102575dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1013_1014dup	ENSP00000514759.2:p.Arg339SerfsTer10
ENST00000710265.1:c.920_921dup	ENSP00000518161.1:p.Arg308SerfsTer10
ENST00000472832.3:c.920_921dup	ENSP00000483066.2:p.Arg308SerfsTer10
ENST00000688158.2:n.1655_1656dup
ENST00000688922.2:c.*750_*751dup	ENSP00000508742.2:n.*750_*751dup
ENST00000700021.1:c.875_876dup	ENSP00000514757.1:p.Arg293SerfsTer10
ENST00000700022.1:c.*259_*260dup	ENSP00000514758.1:n.*259_*260dup
ENST00000700023.1:n.2078_2079dup
ENST00000700024.1:n.2312_2313dup
ENST00000700025.1:n.1689_1690dup
ENST00000700026.1:n.557_558dup
ENST00000706954.1:c.920_921dup	ENSP00000516674.1:p.Arg308SerfsTer10
ENST00000706955.1:c.*955_*956dup	ENSP00000516675.1:n.*955_*956dup
ENST00000686459.1:c.*506_*507dup	ENSP00000508909.1:n.*506_*507dup
ENST00000688158.1:c.*1031_*1032dup	ENSP00000509254.1:n.*1031_*1032dup
ENST00000688308.1:c.920_921dup	ENSP00000508752.1:p.Arg308SerfsTer10
ENST00000688922.1:c.841_842dup
ENST00000693560.1:c.1439_1440dup	ENSP00000509861.1:p.Arg481SerfsTer10
ENST00000371953.8:c.920_921dup MANE Select	ENSP00000361021.3:p.Arg308SerfsTer10
ENST00000371953.7:c.920_921dup	ENSP00000361021.3:p.Arg308SerfsTer10
ENST00000472832.2:c.347_348dup	ENSP00000483066.1:p.Arg117SerfsTer10
NM_000314.5:c.920_921dup	NP_000305.3:p.Arg308SerfsTer10
NM_000314.6:c.920_921dup	NP_000305.3:p.Arg308SerfsTer10
NM_001304717.2:c.1439_1440dup	NP_001291646.2:p.Arg481SerfsTer10
NM_001304718.1:c.329_330dup	NP_001291647.1:p.Arg111SerfsTer10
XM_006717926.2:c.875_876dup	XP_006717989.1:p.Arg293SerfsTer10
XM_011539981.1:c.920_921dup	XP_011538283.1:p.Arg308SerfsTer10
XM_011539982.1:c.824_825dup	XP_011538284.1:p.Arg276SerfsTer10
XR_945791.1:n.1490_1491dup
NM_000314.7:c.920_921dup	NP_000305.3:p.Arg308SerfsTer10
NM_001304717.5:c.1439_1440dup	NP_001291646.4:p.Arg481SerfsTer10
NM_001304718.2:c.329_330dup	NP_001291647.1:p.Arg111SerfsTer10
NM_000314.8:c.920_921dup MANE Select	NP_000305.3:p.Arg308SerfsTer10