Canonical Allele Identifier: CA645554088
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2503368

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960959dup , CM000672.2:g.87960959dup GRCh38
NC_000010.10:g.89720716dup , CM000672.1:g.89720716dup GRCh37
NC_000010.9:g.89710696dup NCBI36
NG_007466.2:g.102521dup , LRG_311:g.102521dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.960dup ENSP00000514759.2:p.Val321SerfsTer8
ENST00000710265.1:c.867dup ENSP00000518161.1:p.Val290SerfsTer8
ENST00000472832.3:c.867dup ENSP00000483066.2:p.Val290SerfsTer8
ENST00000688158.2:n.1602dup
ENST00000688922.2:c.*697dup ENSP00000508742.2:n.*697dup
ENST00000700021.1:c.822dup ENSP00000514757.1:p.Val275SerfsTer8
ENST00000700022.1:c.*206dup ENSP00000514758.1:n.*206dup
ENST00000700023.1:n.2025dup
ENST00000700024.1:n.2259dup
ENST00000700025.1:n.1636dup
ENST00000700026.1:n.504dup
ENST00000700029.1:c.794dup
ENST00000706954.1:c.867dup ENSP00000516674.1:p.Val290SerfsTer8
ENST00000706955.1:c.*902dup ENSP00000516675.1:n.*902dup
ENST00000686459.1:c.*453dup ENSP00000508909.1:n.*453dup
ENST00000688158.1:c.*978dup ENSP00000509254.1:n.*978dup
ENST00000688308.1:c.867dup ENSP00000508752.1:p.Val290SerfsTer8
ENST00000688922.1:c.788dup
ENST00000693560.1:c.1386dup ENSP00000509861.1:p.Val463SerfsTer8
ENST00000371953.8:c.867dup MANE Select ENSP00000361021.3:p.Val290SerfsTer8
ENST00000371953.7:c.867dup ENSP00000361021.3:p.Val290SerfsTer8
ENST00000472832.2:c.294dup ENSP00000483066.1:p.Val99SerfsTer8
NM_000314.5:c.867dup NP_000305.3:p.Val290SerfsTer8
NM_000314.6:c.867dup NP_000305.3:p.Val290SerfsTer8
NM_001304717.2:c.1386dup NP_001291646.2:p.Val463SerfsTer8
NM_001304718.1:c.276dup NP_001291647.1:p.Val93SerfsTer8
XM_006717926.2:c.822dup XP_006717989.1:p.Val275SerfsTer8
XM_011539981.1:c.867dup XP_011538283.1:p.Val290SerfsTer8
XM_011539982.1:c.771dup XP_011538284.1:p.Val258SerfsTer8
XR_945791.1:n.1437dup
NM_000314.7:c.867dup NP_000305.3:p.Val290SerfsTer8
NM_001304717.5:c.1386dup NP_001291646.4:p.Val463SerfsTer8
NM_001304718.2:c.276dup NP_001291647.1:p.Val93SerfsTer8
NM_000314.8:c.867dup MANE Select NP_000305.3:p.Val290SerfsTer8