Canonical Allele Identifier: CA2580615563
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1481386
dbSNP Id: rs1860737554

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965391_87965392del , CM000672.2:g.87965391_87965392del GRCh38
NC_000010.10:g.89725148_89725149del , CM000672.1:g.89725148_89725149del GRCh37
NC_000010.9:g.89715128_89715129del NCBI36
NG_007466.2:g.106953_106954del , LRG_311:g.106953_106954del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1224_1225del ENSP00000514759.2:p.Tyr408Ter
ENST00000710265.1:c.*160_*161del ENSP00000518161.1:n.*160_*161del
ENST00000688158.2:n.1866_1867del
ENST00000688922.2:c.*961_*962del ENSP00000508742.2:n.*961_*962del
ENST00000700021.1:c.1086_1087del ENSP00000514757.1:p.Tyr362Ter
ENST00000700022.1:c.*470_*471del ENSP00000514758.1:n.*470_*471del
ENST00000700023.1:n.2289_2290del
ENST00000700024.1:n.2523_2524del
ENST00000706954.1:c.1131_1132del ENSP00000516674.1:p.Tyr377Ter
ENST00000706955.1:c.*1166_*1167del ENSP00000516675.1:n.*1166_*1167del
ENST00000686459.1:c.*717_*718del ENSP00000508909.1:n.*717_*718del
ENST00000688158.1:c.*1242_*1243del ENSP00000509254.1:n.*1242_*1243del
ENST00000688308.1:c.1131_1132del ENSP00000508752.1:p.Tyr377Ter
ENST00000688922.1:c.1052_1053del
ENST00000693560.1:c.1650_1651del ENSP00000509861.1:p.Tyr550Ter
ENST00000371953.8:c.1131_1132del MANE Select ENSP00000361021.3:p.Tyr377Ter
ENST00000371953.7:c.1131_1132del ENSP00000361021.3:p.Tyr377Ter
NM_000314.5:c.1131_1132del NP_000305.3:p.Tyr377Ter
NM_000314.6:c.1131_1132del NP_000305.3:p.Tyr377Ter
NM_001304717.2:c.1650_1651del NP_001291646.2:p.Tyr550Ter
NM_001304718.1:c.540_541del NP_001291647.1:p.Tyr180Ter
XM_006717926.2:c.1086_1087del XP_006717989.1:p.Tyr362Ter
XM_011539982.1:c.1035_1036del XP_011538284.1:p.Tyr345Ter
XR_945791.1:n.1701_1702del
NM_000314.7:c.1131_1132del NP_000305.3:p.Tyr377Ter
NM_001304717.5:c.1650_1651del NP_001291646.4:p.Tyr550Ter
NM_001304718.2:c.540_541del NP_001291647.1:p.Tyr180Ter
NM_000314.8:c.1131_1132del MANE Select NP_000305.3:p.Tyr377Ter