Canonical Allele Identifier: CA2579926394
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965459_87965461del , CM000672.2:g.87965459_87965461del GRCh38
NC_000010.10:g.89725216_89725218del , CM000672.1:g.89725216_89725218del GRCh37
NC_000010.9:g.89715196_89715198del NCBI36
NG_007466.2:g.107021_107023del , LRG_311:g.107021_107023del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1292_1294del ENSP00000514759.2:p.Ile431del
ENST00000710265.1:c.*228_*230del ENSP00000518161.1:n.*228_*230del
ENST00000688158.2:n.1934_1936del
ENST00000688922.2:c.*1029_*1031del ENSP00000508742.2:n.*1029_*1031del
ENST00000700021.1:c.1154_1156del ENSP00000514757.1:p.Ile385del
ENST00000700022.1:c.*538_*540del ENSP00000514758.1:n.*538_*540del
ENST00000700023.1:n.2357_2359del
ENST00000700024.1:n.2591_2593del
ENST00000706954.1:c.1199_1201del ENSP00000516674.1:p.Ile400del
ENST00000706955.1:c.*1234_*1236del ENSP00000516675.1:n.*1234_*1236del
ENST00000686459.1:c.*785_*787del ENSP00000508909.1:n.*785_*787del
ENST00000688158.1:c.*1310_*1312del ENSP00000509254.1:n.*1310_*1312del
ENST00000688308.1:c.1199_1201del ENSP00000508752.1:p.Ile400del
ENST00000688922.1:c.1120_1122del
ENST00000693560.1:c.1718_1720del ENSP00000509861.1:p.Ile573del
ENST00000371953.8:c.1199_1201del MANE Select ENSP00000361021.3:p.Ile400del
ENST00000371953.7:c.1199_1201del ENSP00000361021.3:p.Ile400del
NM_000314.5:c.1199_1201del NP_000305.3:p.Ile400del
NM_000314.6:c.1199_1201del NP_000305.3:p.Ile400del
NM_001304717.2:c.1718_1720del NP_001291646.2:p.Ile573del
NM_001304718.1:c.608_610del NP_001291647.1:p.Ile203del
XM_006717926.2:c.1154_1156del XP_006717989.1:p.Ile385del
XM_011539982.1:c.1103_1105del XP_011538284.1:p.Ile368del
XR_945791.1:n.1769_1771del
NM_000314.7:c.1199_1201del NP_000305.3:p.Ile400del
NM_001304717.5:c.1718_1720del NP_001291646.4:p.Ile573del
NM_001304718.2:c.608_610del NP_001291647.1:p.Ile203del
NM_000314.8:c.1199_1201del MANE Select NP_000305.3:p.Ile400del