Canonical Allele Identifier: CA2695200975
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2632456
ClinVar RCV Id: RCV003416823

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.1099del ENSP00000514759.2:p.Tyr367ThrfsTer8
ENST00000710265.1:c.1006del ENSP00000518161.1:p.Tyr336ThrfsTer11
ENST00000472832.3:c.1006del ENSP00000483066.2:p.Tyr336ThrfsTer27
ENST00000688158.2:n.1741del
ENST00000688922.2:c.*836del ENSP00000508742.2:n.*836del
ENST00000700021.1:c.961del ENSP00000514757.1:p.Tyr321ThrfsTer8
ENST00000700022.1:c.*345del ENSP00000514758.1:n.*345del
ENST00000700023.1:n.2164del
ENST00000700024.1:n.2398del
ENST00000700025.1:n.1775del
ENST00000700026.1:n.643del
ENST00000706954.1:c.1006del ENSP00000516674.1:p.Tyr336ThrfsTer8
ENST00000706955.1:c.*1041del ENSP00000516675.1:n.*1041del
ENST00000686459.1:c.*592del ENSP00000508909.1:n.*592del
ENST00000688158.1:c.*1117del ENSP00000509254.1:n.*1117del
ENST00000688308.1:c.1006del ENSP00000508752.1:p.Tyr336ThrfsTer8
ENST00000688922.1:c.927del
ENST00000693560.1:c.1525del ENSP00000509861.1:p.Tyr509ThrfsTer8
ENST00000371953.8:c.1006del MANE Select ENSP00000361021.3:p.Tyr336ThrfsTer8
ENST00000371953.7:c.1006del ENSP00000361021.3:p.Tyr336ThrfsTer8
ENST00000472832.2:c.433del ENSP00000483066.1:p.Tyr145ThrfsTer27
NM_000314.5:c.1006del NP_000305.3:p.Tyr336ThrfsTer8
NM_000314.6:c.1006del NP_000305.3:p.Tyr336ThrfsTer8
NM_001304717.2:c.1525del NP_001291646.2:p.Tyr509ThrfsTer8
NM_001304718.1:c.415del NP_001291647.1:p.Tyr139ThrfsTer8
XM_006717926.2:c.961del XP_006717989.1:p.Tyr321ThrfsTer8
XM_011539981.1:c.1006del XP_011538283.1:p.Tyr336ThrfsTer11
XM_011539982.1:c.910del XP_011538284.1:p.Tyr304ThrfsTer8
XR_945791.1:n.1576del
NM_000314.7:c.1006del NP_000305.3:p.Tyr336ThrfsTer8
NM_001304717.5:c.1525del NP_001291646.4:p.Tyr509ThrfsTer8
NM_001304718.2:c.415del NP_001291647.1:p.Tyr139ThrfsTer8
NM_000314.8:c.1006del MANE Select NP_000305.3:p.Tyr336ThrfsTer8