Canonical Allele Identifier: CA2579926528
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965290_87965292del , CM000672.2:g.87965290_87965292del GRCh38
NC_000010.10:g.89725047_89725049del , CM000672.1:g.89725047_89725049del GRCh37
NC_000010.9:g.89715027_89715029del NCBI36
NG_007466.2:g.106852_106854del , LRG_311:g.106852_106854del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1123_1125del ENSP00000514759.2:p.Lys375del
ENST00000710265.1:c.*59_*61del ENSP00000518161.1:n.*59_*61del
ENST00000688158.2:n.1765_1767del
ENST00000688922.2:c.*860_*862del ENSP00000508742.2:n.*860_*862del
ENST00000700021.1:c.985_987del ENSP00000514757.1:p.Lys329del
ENST00000700022.1:c.*369_*371del ENSP00000514758.1:n.*369_*371del
ENST00000700023.1:n.2188_2190del
ENST00000700024.1:n.2422_2424del
ENST00000706954.1:c.1030_1032del ENSP00000516674.1:p.Lys344del
ENST00000706955.1:c.*1065_*1067del ENSP00000516675.1:n.*1065_*1067del
ENST00000686459.1:c.*616_*618del ENSP00000508909.1:n.*616_*618del
ENST00000688158.1:c.*1141_*1143del ENSP00000509254.1:n.*1141_*1143del
ENST00000688308.1:c.1030_1032del ENSP00000508752.1:p.Lys344del
ENST00000688922.1:c.951_953del
ENST00000693560.1:c.1549_1551del ENSP00000509861.1:p.Lys517del
ENST00000371953.8:c.1030_1032del MANE Select ENSP00000361021.3:p.Lys344del
ENST00000371953.7:c.1030_1032del ENSP00000361021.3:p.Lys344del
NM_000314.5:c.1030_1032del NP_000305.3:p.Lys344del
NM_000314.6:c.1030_1032del NP_000305.3:p.Lys344del
NM_001304717.2:c.1549_1551del NP_001291646.2:p.Lys517del
NM_001304718.1:c.439_441del NP_001291647.1:p.Lys147del
XM_006717926.2:c.985_987del XP_006717989.1:p.Lys329del
XM_011539982.1:c.934_936del XP_011538284.1:p.Lys312del
XR_945791.1:n.1600_1602del
NM_000314.7:c.1030_1032del NP_000305.3:p.Lys344del
NM_001304717.5:c.1549_1551del NP_001291646.4:p.Lys517del
NM_001304718.2:c.439_441del NP_001291647.1:p.Lys147del
NM_000314.8:c.1030_1032del MANE Select NP_000305.3:p.Lys344del