Canonical Allele Identifier: CA2695200910
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2673953
ClinVar RCV Id: RCV003450561

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961043dup , CM000672.2:g.87961043dup GRCh38
NC_000010.10:g.89720800dup , CM000672.1:g.89720800dup GRCh37
NC_000010.9:g.89710780dup NCBI36
NG_007466.2:g.102605dup , LRG_311:g.102605dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1044dup ENSP00000514759.2:p.Leu349ThrfsTer7
ENST00000710265.1:c.951dup ENSP00000518161.1:p.Leu318ThrfsTer7
ENST00000472832.3:c.951dup ENSP00000483066.2:p.Leu318ThrfsTer7
ENST00000688158.2:n.1686dup
ENST00000688922.2:c.*781dup ENSP00000508742.2:n.*781dup
ENST00000700021.1:c.906dup ENSP00000514757.1:p.Leu303ThrfsTer7
ENST00000700022.1:c.*290dup ENSP00000514758.1:n.*290dup
ENST00000700023.1:n.2109dup
ENST00000700024.1:n.2343dup
ENST00000700025.1:n.1720dup
ENST00000700026.1:n.588dup
ENST00000706954.1:c.951dup ENSP00000516674.1:p.Leu318ThrfsTer7
ENST00000706955.1:c.*986dup ENSP00000516675.1:n.*986dup
ENST00000686459.1:c.*537dup ENSP00000508909.1:n.*537dup
ENST00000688158.1:c.*1062dup ENSP00000509254.1:n.*1062dup
ENST00000688308.1:c.951dup ENSP00000508752.1:p.Leu318ThrfsTer7
ENST00000688922.1:c.872dup
ENST00000693560.1:c.1470dup ENSP00000509861.1:p.Leu491ThrfsTer7
ENST00000371953.8:c.951dup MANE Select ENSP00000361021.3:p.Leu318ThrfsTer7
ENST00000371953.7:c.951dup ENSP00000361021.3:p.Leu318ThrfsTer7
ENST00000472832.2:c.378dup ENSP00000483066.1:p.Leu127ThrfsTer7
NM_000314.5:c.951dup NP_000305.3:p.Leu318ThrfsTer7
NM_000314.6:c.951dup NP_000305.3:p.Leu318ThrfsTer7
NM_001304717.2:c.1470dup NP_001291646.2:p.Leu491ThrfsTer7
NM_001304718.1:c.360dup NP_001291647.1:p.Leu121ThrfsTer7
XM_006717926.2:c.906dup XP_006717989.1:p.Leu303ThrfsTer7
XM_011539981.1:c.951dup XP_011538283.1:p.Leu318ThrfsTer7
XM_011539982.1:c.855dup XP_011538284.1:p.Leu286ThrfsTer7
XR_945791.1:n.1521dup
NM_000314.7:c.951dup NP_000305.3:p.Leu318ThrfsTer7
NM_001304717.5:c.1470dup NP_001291646.4:p.Leu491ThrfsTer7
NM_001304718.2:c.360dup NP_001291647.1:p.Leu121ThrfsTer7
NM_000314.8:c.951dup MANE Select NP_000305.3:p.Leu318ThrfsTer7