Canonical Allele Identifier: CA2579926407
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965416_87965418del , CM000672.2:g.87965416_87965418del GRCh38
NC_000010.10:g.89725173_89725175del , CM000672.1:g.89725173_89725175del GRCh37
NC_000010.9:g.89715153_89715155del NCBI36
NG_007466.2:g.106978_106980del , LRG_311:g.106978_106980del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1249_1251del ENSP00000514759.2:p.Asp417del
ENST00000710265.1:c.*185_*187del ENSP00000518161.1:n.*185_*187del
ENST00000688158.2:n.1891_1893del
ENST00000688922.2:c.*986_*988del ENSP00000508742.2:n.*986_*988del
ENST00000700021.1:c.1111_1113del ENSP00000514757.1:p.Asp371del
ENST00000700022.1:c.*495_*497del ENSP00000514758.1:n.*495_*497del
ENST00000700023.1:n.2314_2316del
ENST00000700024.1:n.2548_2550del
ENST00000706954.1:c.1156_1158del ENSP00000516674.1:p.Asp386del
ENST00000706955.1:c.*1191_*1193del ENSP00000516675.1:n.*1191_*1193del
ENST00000686459.1:c.*742_*744del ENSP00000508909.1:n.*742_*744del
ENST00000688158.1:c.*1267_*1269del ENSP00000509254.1:n.*1267_*1269del
ENST00000688308.1:c.1156_1158del ENSP00000508752.1:p.Asp386del
ENST00000688922.1:c.1077_1079del
ENST00000693560.1:c.1675_1677del ENSP00000509861.1:p.Asp559del
ENST00000371953.8:c.1156_1158del MANE Select ENSP00000361021.3:p.Asp386del
ENST00000371953.7:c.1156_1158del ENSP00000361021.3:p.Asp386del
NM_000314.5:c.1156_1158del NP_000305.3:p.Asp386del
NM_000314.6:c.1156_1158del NP_000305.3:p.Asp386del
NM_001304717.2:c.1675_1677del NP_001291646.2:p.Asp559del
NM_001304718.1:c.565_567del NP_001291647.1:p.Asp189del
XM_006717926.2:c.1111_1113del XP_006717989.1:p.Asp371del
XM_011539982.1:c.1060_1062del XP_011538284.1:p.Asp354del
XR_945791.1:n.1726_1728del
NM_000314.7:c.1156_1158del NP_000305.3:p.Asp386del
NM_001304717.5:c.1675_1677del NP_001291646.4:p.Asp559del
NM_001304718.2:c.565_567del NP_001291647.1:p.Asp189del
NM_000314.8:c.1156_1158del MANE Select NP_000305.3:p.Asp386del