Canonical Allele Identifier: CA645554099
Gene: PTEN HGNC NCBI

Linked Data

COSMIC: COSM921146

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961012_87961015del , CM000672.2:g.87961012_87961015del GRCh38
NC_000010.10:g.89720769_89720772del , CM000672.1:g.89720769_89720772del GRCh37
NC_000010.9:g.89710749_89710752del NCBI36
NG_007466.2:g.102574_102577del , LRG_311:g.102574_102577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1013_1016del ENSP00000514759.2:p.Glu338ValfsTer9
ENST00000710265.1:c.920_923del ENSP00000518161.1:p.Glu307ValfsTer9
ENST00000472832.3:c.920_923del ENSP00000483066.2:p.Glu307ValfsTer9
ENST00000688158.2:n.1655_1658del
ENST00000688922.2:c.*750_*753del ENSP00000508742.2:n.*750_*753del
ENST00000700021.1:c.875_878del ENSP00000514757.1:p.Glu292ValfsTer9
ENST00000700022.1:c.*259_*262del ENSP00000514758.1:n.*259_*262del
ENST00000700023.1:n.2078_2081del
ENST00000700024.1:n.2312_2315del
ENST00000700025.1:n.1689_1692del
ENST00000700026.1:n.557_560del
ENST00000706954.1:c.920_923del ENSP00000516674.1:p.Glu307ValfsTer9
ENST00000706955.1:c.*955_*958del ENSP00000516675.1:n.*955_*958del
ENST00000686459.1:c.*506_*509del ENSP00000508909.1:n.*506_*509del
ENST00000688158.1:c.*1031_*1034del ENSP00000509254.1:n.*1031_*1034del
ENST00000688308.1:c.920_923del ENSP00000508752.1:p.Glu307ValfsTer9
ENST00000688922.1:c.841_844del
ENST00000693560.1:c.1439_1442del ENSP00000509861.1:p.Glu480ValfsTer9
ENST00000371953.8:c.920_923del MANE Select ENSP00000361021.3:p.Glu307ValfsTer9
ENST00000371953.7:c.920_923del ENSP00000361021.3:p.Glu307ValfsTer9
ENST00000472832.2:c.347_350del ENSP00000483066.1:p.Glu116ValfsTer9
NM_000314.5:c.920_923del NP_000305.3:p.Glu307ValfsTer9
NM_000314.6:c.920_923del NP_000305.3:p.Glu307ValfsTer9
NM_001304717.2:c.1439_1442del NP_001291646.2:p.Glu480ValfsTer9
NM_001304718.1:c.329_332del NP_001291647.1:p.Glu110ValfsTer9
XM_006717926.2:c.875_878del XP_006717989.1:p.Glu292ValfsTer9
XM_011539981.1:c.920_923del XP_011538283.1:p.Glu307ValfsTer9
XM_011539982.1:c.824_827del XP_011538284.1:p.Glu275ValfsTer9
XR_945791.1:n.1490_1493del
NM_000314.7:c.920_923del NP_000305.3:p.Glu307ValfsTer9
NM_001304717.5:c.1439_1442del NP_001291646.4:p.Glu480ValfsTer9
NM_001304718.2:c.329_332del NP_001291647.1:p.Glu110ValfsTer9
NM_000314.8:c.920_923del MANE Select NP_000305.3:p.Glu307ValfsTer9