Canonical Allele Identifier: CA2579926396
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965458_87965460delinsCAA , CM000672.2:g.87965458_87965460delinsCAA GRCh38
NC_000010.10:g.89725215_89725217delinsCAA , CM000672.1:g.89725215_89725217delinsCAA GRCh37
NC_000010.9:g.89715195_89715197delinsCAA NCBI36
NG_007466.2:g.107020_107022delinsCAA , LRG_311:g.107020_107022delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1291_1293delinsCAA ENSP00000514759.2:p.Ile431Gln
ENST00000710265.1:c.*227_*229delinsCAA ENSP00000518161.1:n.*227_*229delinsCAA
ENST00000688158.2:n.1933_1935delinsCAA
ENST00000688922.2:c.*1028_*1030delinsCAA ENSP00000508742.2:n.*1028_*1030delinsCAA
ENST00000700021.1:c.1153_1155delinsCAA ENSP00000514757.1:p.Ile385Gln
ENST00000700022.1:c.*537_*539delinsCAA ENSP00000514758.1:n.*537_*539delinsCAA
ENST00000700023.1:n.2356_2358delinsCAA
ENST00000700024.1:n.2590_2592delinsCAA
ENST00000706954.1:c.1198_1200delinsCAA ENSP00000516674.1:p.Ile400Gln
ENST00000706955.1:c.*1233_*1235delinsCAA ENSP00000516675.1:n.*1233_*1235delinsCAA
ENST00000686459.1:c.*784_*786delinsCAA ENSP00000508909.1:n.*784_*786delinsCAA
ENST00000688158.1:c.*1309_*1311delinsCAA ENSP00000509254.1:n.*1309_*1311delinsCAA
ENST00000688308.1:c.1198_1200delinsCAA ENSP00000508752.1:p.Ile400Gln
ENST00000688922.1:c.1119_1121delinsCAA
ENST00000693560.1:c.1717_1719delinsCAA ENSP00000509861.1:p.Ile573Gln
ENST00000371953.8:c.1198_1200delinsCAA MANE Select ENSP00000361021.3:p.Ile400Gln
ENST00000371953.7:c.1198_1200delinsCAA ENSP00000361021.3:p.Ile400Gln
NM_000314.5:c.1198_1200delinsCAA NP_000305.3:p.Ile400Gln
NM_000314.6:c.1198_1200delinsCAA NP_000305.3:p.Ile400Gln
NM_001304717.2:c.1717_1719delinsCAA NP_001291646.2:p.Ile573Gln
NM_001304718.1:c.607_609delinsCAA NP_001291647.1:p.Ile203Gln
XM_006717926.2:c.1153_1155delinsCAA XP_006717989.1:p.Ile385Gln
XM_011539982.1:c.1102_1104delinsCAA XP_011538284.1:p.Ile368Gln
XR_945791.1:n.1768_1770delinsCAA
NM_000314.7:c.1198_1200delinsCAA NP_000305.3:p.Ile400Gln
NM_001304717.5:c.1717_1719delinsCAA NP_001291646.4:p.Ile573Gln
NM_001304718.2:c.607_609delinsCAA NP_001291647.1:p.Ile203Gln
NM_000314.8:c.1198_1200delinsCAA MANE Select NP_000305.3:p.Ile400Gln