Canonical Allele Identifier: CA658656126
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 468666
ClinVar RCV Id: RCV003451167
dbSNP Id: rs1554825631

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961098dup , CM000672.2:g.87961098dup GRCh38
NC_000010.10:g.89720855dup , CM000672.1:g.89720855dup GRCh37
NC_000010.9:g.89710835dup NCBI36
NG_007466.2:g.102660dup , LRG_311:g.102660dup

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.1099dup ENSP00000514759.2:p.Tyr367LeufsTer7
ENST00000710265.1:c.1006dup ENSP00000518161.1:p.Tyr336LeufsTer7
ENST00000472832.3:c.1006dup ENSP00000483066.2:p.Tyr336LeufsTer7
ENST00000688158.2:n.1741dup
ENST00000688922.2:c.*836dup ENSP00000508742.2:n.*836dup
ENST00000700021.1:c.961dup ENSP00000514757.1:p.Tyr321LeufsTer7
ENST00000700022.1:c.*345dup ENSP00000514758.1:n.*345dup
ENST00000700023.1:n.2164dup
ENST00000700024.1:n.2398dup
ENST00000700025.1:n.1775dup
ENST00000700026.1:n.643dup
ENST00000706954.1:c.1006dup ENSP00000516674.1:p.Tyr336LeufsTer7
ENST00000706955.1:c.*1041dup ENSP00000516675.1:n.*1041dup
ENST00000686459.1:c.*592dup ENSP00000508909.1:n.*592dup
ENST00000688158.1:c.*1117dup ENSP00000509254.1:n.*1117dup
ENST00000688308.1:c.1006dup ENSP00000508752.1:p.Tyr336LeufsTer7
ENST00000688922.1:c.927dup
ENST00000693560.1:c.1525dup ENSP00000509861.1:p.Tyr509LeufsTer7
ENST00000371953.8:c.1006dup MANE Select ENSP00000361021.3:p.Tyr336LeufsTer7
ENST00000371953.7:c.1006dup ENSP00000361021.3:p.Tyr336LeufsTer7
ENST00000472832.2:c.433dup ENSP00000483066.1:p.Tyr145LeufsTer7
NM_000314.5:c.1006dup NP_000305.3:p.Tyr336LeufsTer7
NM_000314.6:c.1006dup NP_000305.3:p.Tyr336LeufsTer7
NM_001304717.2:c.1525dup NP_001291646.2:p.Tyr509LeufsTer7
NM_001304718.1:c.415dup NP_001291647.1:p.Tyr139LeufsTer7
XM_006717926.2:c.961dup XP_006717989.1:p.Tyr321LeufsTer7
XM_011539981.1:c.1006dup XP_011538283.1:p.Tyr336LeufsTer7
XM_011539982.1:c.910dup XP_011538284.1:p.Tyr304LeufsTer7
XR_945791.1:n.1576dup
NM_000314.7:c.1006dup NP_000305.3:p.Tyr336LeufsTer7
NM_001304717.5:c.1525dup NP_001291646.4:p.Tyr509LeufsTer7
NM_001304718.2:c.415dup NP_001291647.1:p.Tyr139LeufsTer7
NM_000314.8:c.1006dup MANE Select NP_000305.3:p.Tyr336LeufsTer7