Canonical Allele Identifier: CA645553827
Gene: PTEN HGNC NCBI

Linked Data

COSMIC: COSM4910

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933139_87933145del , CM000672.2:g.87933139_87933145del GRCh38
NC_000010.10:g.89692896_89692902del , CM000672.1:g.89692896_89692902del GRCh37
NC_000010.9:g.89682876_89682882del NCBI36
NG_007466.2:g.74701_74707del , LRG_311:g.74701_74707del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.380_386del ENSP00000514759.2:p.Gly127AspfsTer5
ENST00000710265.1:c.380_386del ENSP00000518161.1:p.Gly127AspfsTer5
ENST00000472832.3:c.380_386del ENSP00000483066.2:p.Gly127AspfsTer5
ENST00000688158.2:n.1115_1121del
ENST00000688922.2:c.*210_*216del ENSP00000508742.2:n.*210_*216del
ENST00000700021.1:c.335_341del ENSP00000514757.1:p.Gly112AspfsTer5
ENST00000700022.1:c.380_386del ENSP00000514758.1:p.Gly127AspfsTer5
ENST00000700029.1:c.214_220del
ENST00000706954.1:c.380_386del ENSP00000516674.1:p.Gly127AspfsTer5
ENST00000706955.1:c.*415_*421del ENSP00000516675.1:n.*415_*421del
ENST00000686459.1:c.380_386del ENSP00000508909.1:p.Gly127AspfsTer5
ENST00000688158.1:c.*491_*497del ENSP00000509254.1:n.*491_*497del
ENST00000688308.1:c.380_386del ENSP00000508752.1:p.Gly127AspfsTer5
ENST00000688922.1:c.301_307del
ENST00000693560.1:c.899_905del ENSP00000509861.1:p.Gly300AspfsTer5
ENST00000371953.8:c.380_386del MANE Select ENSP00000361021.3:p.Gly127AspfsTer5
ENST00000371953.7:c.380_386del ENSP00000361021.3:p.Gly127AspfsTer5
ENST00000498703.1:n.206_212del
ENST00000610634.1:c.278_284del ENSP00000477517.1:p.Gly93AspfsTer5
NM_000314.5:c.380_386del NP_000305.3:p.Gly127AspfsTer5
NM_000314.6:c.380_386del NP_000305.3:p.Gly127AspfsTer5
NM_001304717.2:c.899_905del NP_001291646.2:p.Gly300AspfsTer5
NM_001304718.1:c.-371_-365del NP_001291647.1:n.-371_-365del
XM_006717926.2:c.335_341del XP_006717989.1:p.Gly112AspfsTer5
XM_011539981.1:c.380_386del XP_011538283.1:p.Gly127AspfsTer5
XM_011539982.1:c.284_290del XP_011538284.1:p.Gly95AspfsTer5
XR_945789.1:n.1092_1098del
XR_945790.1:n.1092_1098del
XR_945791.1:n.1092_1098del
NM_000314.7:c.380_386del NP_000305.3:p.Gly127AspfsTer5
NM_001304717.5:c.899_905del NP_001291646.4:p.Gly300AspfsTer5
NM_001304718.2:c.-371_-365del NP_001291647.1:n.-371_-365del
NM_000314.8:c.380_386del MANE Select NP_000305.3:p.Gly127AspfsTer5