Canonical Allele Identifier: CA2579926686
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961054_87961056del , CM000672.2:g.87961054_87961056del GRCh38
NC_000010.10:g.89720811_89720813del , CM000672.1:g.89720811_89720813del GRCh37
NC_000010.9:g.89710791_89710793del NCBI36
NG_007466.2:g.102616_102618del , LRG_311:g.102616_102618del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1055_1057del ENSP00000514759.2:p.Thr352del
ENST00000710265.1:c.962_964del ENSP00000518161.1:p.Thr321del
ENST00000472832.3:c.962_964del ENSP00000483066.2:p.Thr321del
ENST00000688158.2:n.1697_1699del
ENST00000688922.2:c.*792_*794del ENSP00000508742.2:n.*792_*794del
ENST00000700021.1:c.917_919del ENSP00000514757.1:p.Thr306del
ENST00000700022.1:c.*301_*303del ENSP00000514758.1:n.*301_*303del
ENST00000700023.1:n.2120_2122del
ENST00000700024.1:n.2354_2356del
ENST00000700025.1:n.1731_1733del
ENST00000700026.1:n.599_601del
ENST00000706954.1:c.962_964del ENSP00000516674.1:p.Thr321del
ENST00000706955.1:c.*997_*999del ENSP00000516675.1:n.*997_*999del
ENST00000686459.1:c.*548_*550del ENSP00000508909.1:n.*548_*550del
ENST00000688158.1:c.*1073_*1075del ENSP00000509254.1:n.*1073_*1075del
ENST00000688308.1:c.962_964del ENSP00000508752.1:p.Thr321del
ENST00000688922.1:c.883_885del
ENST00000693560.1:c.1481_1483del ENSP00000509861.1:p.Thr494del
ENST00000371953.8:c.962_964del MANE Select ENSP00000361021.3:p.Thr321del
ENST00000371953.7:c.962_964del ENSP00000361021.3:p.Thr321del
ENST00000472832.2:c.389_391del ENSP00000483066.1:p.Thr130del
NM_000314.5:c.962_964del NP_000305.3:p.Thr321del
NM_000314.6:c.962_964del NP_000305.3:p.Thr321del
NM_001304717.2:c.1481_1483del NP_001291646.2:p.Thr494del
NM_001304718.1:c.371_373del NP_001291647.1:p.Thr124del
XM_006717926.2:c.917_919del XP_006717989.1:p.Thr306del
XM_011539981.1:c.962_964del XP_011538283.1:p.Thr321del
XM_011539982.1:c.866_868del XP_011538284.1:p.Thr289del
XR_945791.1:n.1532_1534del
NM_000314.7:c.962_964del NP_000305.3:p.Thr321del
NM_001304717.5:c.1481_1483del NP_001291646.4:p.Thr494del
NM_001304718.2:c.371_373del NP_001291647.1:p.Thr124del
NM_000314.8:c.962_964del MANE Select NP_000305.3:p.Thr321del