Canonical Allele Identifier: CA2580082396
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2016106
ClinVar RCV Id: RCV002843731

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961104dup , CM000672.2:g.87961104dup GRCh38
NC_000010.10:g.89720861dup , CM000672.1:g.89720861dup GRCh37
NC_000010.9:g.89710841dup NCBI36
NG_007466.2:g.102666dup , LRG_311:g.102666dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1105dup ENSP00000514759.2:p.Ser369PhefsTer5
ENST00000710265.1:c.1012dup ENSP00000518161.1:p.Ser338PhefsTer5
ENST00000472832.3:c.1012dup ENSP00000483066.2:p.Ser338PhefsTer5
ENST00000688158.2:n.1747dup
ENST00000688922.2:c.*842dup ENSP00000508742.2:n.*842dup
ENST00000700021.1:c.967dup ENSP00000514757.1:p.Ser323PhefsTer5
ENST00000700022.1:c.*351dup ENSP00000514758.1:n.*351dup
ENST00000700023.1:n.2170dup
ENST00000700024.1:n.2404dup
ENST00000700025.1:n.1781dup
ENST00000700026.1:n.649dup
ENST00000706954.1:c.1012dup ENSP00000516674.1:p.Ser338PhefsTer5
ENST00000706955.1:c.*1047dup ENSP00000516675.1:n.*1047dup
ENST00000686459.1:c.*598dup ENSP00000508909.1:n.*598dup
ENST00000688158.1:c.*1123dup ENSP00000509254.1:n.*1123dup
ENST00000688308.1:c.1012dup ENSP00000508752.1:p.Ser338PhefsTer5
ENST00000688922.1:c.933dup
ENST00000693560.1:c.1531dup ENSP00000509861.1:p.Ser511PhefsTer5
ENST00000371953.8:c.1012dup MANE Select ENSP00000361021.3:p.Ser338PhefsTer5
ENST00000371953.7:c.1012dup ENSP00000361021.3:p.Ser338PhefsTer5
ENST00000472832.2:c.439dup ENSP00000483066.1:p.Ser147PhefsTer5
NM_000314.5:c.1012dup NP_000305.3:p.Ser338PhefsTer5
NM_000314.6:c.1012dup NP_000305.3:p.Ser338PhefsTer5
NM_001304717.2:c.1531dup NP_001291646.2:p.Ser511PhefsTer5
NM_001304718.1:c.421dup NP_001291647.1:p.Ser141PhefsTer5
XM_006717926.2:c.967dup XP_006717989.1:p.Ser323PhefsTer5
XM_011539981.1:c.1012dup XP_011538283.1:p.Ser338PhefsTer5
XM_011539982.1:c.916dup XP_011538284.1:p.Ser306PhefsTer5
XR_945791.1:n.1582dup
NM_000314.7:c.1012dup NP_000305.3:p.Ser338PhefsTer5
NM_001304717.5:c.1531dup NP_001291646.4:p.Ser511PhefsTer5
NM_001304718.2:c.421dup NP_001291647.1:p.Ser141PhefsTer5
NM_000314.8:c.1012dup MANE Select NP_000305.3:p.Ser338PhefsTer5