Canonical Allele Identifier: CA2579926483
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965303_87965305del , CM000672.2:g.87965303_87965305del GRCh38
NC_000010.10:g.89725060_89725062del , CM000672.1:g.89725060_89725062del GRCh37
NC_000010.9:g.89715040_89715042del NCBI36
NG_007466.2:g.106865_106867del , LRG_311:g.106865_106867del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1136_1138del ENSP00000514759.2:p.Thr379del
ENST00000710265.1:c.*72_*74del ENSP00000518161.1:n.*72_*74del
ENST00000688158.2:n.1778_1780del
ENST00000688922.2:c.*873_*875del ENSP00000508742.2:n.*873_*875del
ENST00000700021.1:c.998_1000del ENSP00000514757.1:p.Thr333del
ENST00000700022.1:c.*382_*384del ENSP00000514758.1:n.*382_*384del
ENST00000700023.1:n.2201_2203del
ENST00000700024.1:n.2435_2437del
ENST00000706954.1:c.1043_1045del ENSP00000516674.1:p.Thr348del
ENST00000706955.1:c.*1078_*1080del ENSP00000516675.1:n.*1078_*1080del
ENST00000686459.1:c.*629_*631del ENSP00000508909.1:n.*629_*631del
ENST00000688158.1:c.*1154_*1156del ENSP00000509254.1:n.*1154_*1156del
ENST00000688308.1:c.1043_1045del ENSP00000508752.1:p.Thr348del
ENST00000688922.1:c.964_966del
ENST00000693560.1:c.1562_1564del ENSP00000509861.1:p.Thr521del
ENST00000371953.8:c.1043_1045del MANE Select ENSP00000361021.3:p.Thr348del
ENST00000371953.7:c.1043_1045del ENSP00000361021.3:p.Thr348del
NM_000314.5:c.1043_1045del NP_000305.3:p.Thr348del
NM_000314.6:c.1043_1045del NP_000305.3:p.Thr348del
NM_001304717.2:c.1562_1564del NP_001291646.2:p.Thr521del
NM_001304718.1:c.452_454del NP_001291647.1:p.Thr151del
XM_006717926.2:c.998_1000del XP_006717989.1:p.Thr333del
XM_011539982.1:c.947_949del XP_011538284.1:p.Thr316del
XR_945791.1:n.1613_1615del
NM_000314.7:c.1043_1045del NP_000305.3:p.Thr348del
NM_001304717.5:c.1562_1564del NP_001291646.4:p.Thr521del
NM_001304718.2:c.452_454del NP_001291647.1:p.Thr151del
NM_000314.8:c.1043_1045del MANE Select NP_000305.3:p.Thr348del