Canonical Allele Identifier: CA2579926568
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965363_87965365del , CM000672.2:g.87965363_87965365del GRCh38
NC_000010.10:g.89725120_89725122del , CM000672.1:g.89725120_89725122del GRCh37
NC_000010.9:g.89715100_89715102del NCBI36
NG_007466.2:g.106925_106927del , LRG_311:g.106925_106927del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1196_1198del ENSP00000514759.2:p.Asp399del
ENST00000710265.1:c.*132_*134del ENSP00000518161.1:n.*132_*134del
ENST00000688158.2:n.1838_1840del
ENST00000688922.2:c.*933_*935del ENSP00000508742.2:n.*933_*935del
ENST00000700021.1:c.1058_1060del ENSP00000514757.1:p.Asp353del
ENST00000700022.1:c.*442_*444del ENSP00000514758.1:n.*442_*444del
ENST00000700023.1:n.2261_2263del
ENST00000700024.1:n.2495_2497del
ENST00000706954.1:c.1103_1105del ENSP00000516674.1:p.Asp368del
ENST00000706955.1:c.*1138_*1140del ENSP00000516675.1:n.*1138_*1140del
ENST00000686459.1:c.*689_*691del ENSP00000508909.1:n.*689_*691del
ENST00000688158.1:c.*1214_*1216del ENSP00000509254.1:n.*1214_*1216del
ENST00000688308.1:c.1103_1105del ENSP00000508752.1:p.Asp368del
ENST00000688922.1:c.1024_1026del
ENST00000693560.1:c.1622_1624del ENSP00000509861.1:p.Asp541del
ENST00000371953.8:c.1103_1105del MANE Select ENSP00000361021.3:p.Asp368del
ENST00000371953.7:c.1103_1105del ENSP00000361021.3:p.Asp368del
NM_000314.5:c.1103_1105del NP_000305.3:p.Asp368del
NM_000314.6:c.1103_1105del NP_000305.3:p.Asp368del
NM_001304717.2:c.1622_1624del NP_001291646.2:p.Asp541del
NM_001304718.1:c.512_514del NP_001291647.1:p.Asp171del
XM_006717926.2:c.1058_1060del XP_006717989.1:p.Asp353del
XM_011539982.1:c.1007_1009del XP_011538284.1:p.Asp336del
XR_945791.1:n.1673_1675del
NM_000314.7:c.1103_1105del NP_000305.3:p.Asp368del
NM_001304717.5:c.1622_1624del NP_001291646.4:p.Asp541del
NM_001304718.2:c.512_514del NP_001291647.1:p.Asp171del
NM_000314.8:c.1103_1105del MANE Select NP_000305.3:p.Asp368del