Canonical Allele Identifier: CA2579926454
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965416_87965418delinsTGG , CM000672.2:g.87965416_87965418delinsTGG GRCh38
NC_000010.10:g.89725173_89725175delinsTGG , CM000672.1:g.89725173_89725175delinsTGG GRCh37
NC_000010.9:g.89715153_89715155delinsTGG NCBI36
NG_007466.2:g.106978_106980delinsTGG , LRG_311:g.106978_106980delinsTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1249_1251delinsTGG ENSP00000514759.2:p.Asp417Trp
ENST00000710265.1:c.*185_*187delinsTGG ENSP00000518161.1:n.*185_*187delinsTGG
ENST00000688158.2:n.1891_1893delinsTGG
ENST00000688922.2:c.*986_*988delinsTGG ENSP00000508742.2:n.*986_*988delinsTGG
ENST00000700021.1:c.1111_1113delinsTGG ENSP00000514757.1:p.Asp371Trp
ENST00000700022.1:c.*495_*497delinsTGG ENSP00000514758.1:n.*495_*497delinsTGG
ENST00000700023.1:n.2314_2316delinsTGG
ENST00000700024.1:n.2548_2550delinsTGG
ENST00000706954.1:c.1156_1158delinsTGG ENSP00000516674.1:p.Asp386Trp
ENST00000706955.1:c.*1191_*1193delinsTGG ENSP00000516675.1:n.*1191_*1193delinsTGG
ENST00000686459.1:c.*742_*744delinsTGG ENSP00000508909.1:n.*742_*744delinsTGG
ENST00000688158.1:c.*1267_*1269delinsTGG ENSP00000509254.1:n.*1267_*1269delinsTGG
ENST00000688308.1:c.1156_1158delinsTGG ENSP00000508752.1:p.Asp386Trp
ENST00000688922.1:c.1077_1079delinsTGG
ENST00000693560.1:c.1675_1677delinsTGG ENSP00000509861.1:p.Asp559Trp
ENST00000371953.8:c.1156_1158delinsTGG MANE Select ENSP00000361021.3:p.Asp386Trp
ENST00000371953.7:c.1156_1158delinsTGG ENSP00000361021.3:p.Asp386Trp
NM_000314.5:c.1156_1158delinsTGG NP_000305.3:p.Asp386Trp
NM_000314.6:c.1156_1158delinsTGG NP_000305.3:p.Asp386Trp
NM_001304717.2:c.1675_1677delinsTGG NP_001291646.2:p.Asp559Trp
NM_001304718.1:c.565_567delinsTGG NP_001291647.1:p.Asp189Trp
XM_006717926.2:c.1111_1113delinsTGG XP_006717989.1:p.Asp371Trp
XM_011539982.1:c.1060_1062delinsTGG XP_011538284.1:p.Asp354Trp
XR_945791.1:n.1726_1728delinsTGG
NM_000314.7:c.1156_1158delinsTGG NP_000305.3:p.Asp386Trp
NM_001304717.5:c.1675_1677delinsTGG NP_001291646.4:p.Asp559Trp
NM_001304718.2:c.565_567delinsTGG NP_001291647.1:p.Asp189Trp
NM_000314.8:c.1156_1158delinsTGG MANE Select NP_000305.3:p.Asp386Trp