Canonical Allele Identifier: CA10582769
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 237637
dbSNP Id: rs878853931

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965317_87965319del , CM000672.2:g.87965317_87965319del GRCh38
NC_000010.10:g.89725074_89725076del , CM000672.1:g.89725074_89725076del GRCh37
NC_000010.9:g.89715054_89715056del NCBI36
NG_007466.2:g.106879_106881del , LRG_311:g.106879_106881del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1150_1152del ENSP00000514759.2:p.Glu384del
ENST00000710265.1:c.*86_*88del ENSP00000518161.1:n.*86_*88del
ENST00000688158.2:n.1792_1794del
ENST00000688922.2:c.*887_*889del ENSP00000508742.2:n.*887_*889del
ENST00000700021.1:c.1012_1014del ENSP00000514757.1:p.Glu338del
ENST00000700022.1:c.*396_*398del ENSP00000514758.1:n.*396_*398del
ENST00000700023.1:n.2215_2217del
ENST00000700024.1:n.2449_2451del
ENST00000706954.1:c.1057_1059del ENSP00000516674.1:p.Glu353del
ENST00000706955.1:c.*1092_*1094del ENSP00000516675.1:n.*1092_*1094del
ENST00000686459.1:c.*643_*645del ENSP00000508909.1:n.*643_*645del
ENST00000688158.1:c.*1168_*1170del ENSP00000509254.1:n.*1168_*1170del
ENST00000688308.1:c.1057_1059del ENSP00000508752.1:p.Glu353del
ENST00000688922.1:c.978_980del
ENST00000693560.1:c.1576_1578del ENSP00000509861.1:p.Glu526del
ENST00000371953.8:c.1057_1059del MANE Select ENSP00000361021.3:p.Glu353del
ENST00000371953.7:c.1057_1059del ENSP00000361021.3:p.Glu353del
NM_000314.5:c.1057_1059del NP_000305.3:p.Glu353del
NM_000314.6:c.1057_1059del NP_000305.3:p.Glu353del
NM_001304717.2:c.1576_1578del NP_001291646.2:p.Glu526del
NM_001304718.1:c.466_468del NP_001291647.1:p.Glu156del
XM_006717926.2:c.1012_1014del XP_006717989.1:p.Glu338del
XM_011539982.1:c.961_963del XP_011538284.1:p.Glu321del
XR_945791.1:n.1627_1629del
NM_000314.7:c.1057_1059del NP_000305.3:p.Glu353del
NM_001304717.5:c.1576_1578del NP_001291646.4:p.Glu526del
NM_001304718.2:c.466_468del NP_001291647.1:p.Glu156del
NM_000314.8:c.1057_1059del MANE Select NP_000305.3:p.Glu353del