Canonical Allele Identifier: CA658656108
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 468709
dbSNP Id: rs1554825189

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957911del , CM000672.2:g.87957911del GRCh38
NC_000010.10:g.89717668del , CM000672.1:g.89717668del GRCh37
NC_000010.9:g.89707648del NCBI36
NG_007466.2:g.99473del , LRG_311:g.99473del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.693del ENSP00000514759.2:p.Thr232HisfsTer24
ENST00000710265.1:c.693del ENSP00000518161.1:p.Thr232HisfsTer24
ENST00000472832.3:c.693del ENSP00000483066.2:p.Thr232HisfsTer24
ENST00000688158.2:n.1428del
ENST00000688922.2:c.*523del ENSP00000508742.2:n.*523del
ENST00000700021.1:c.648del ENSP00000514757.1:p.Thr217HisfsTer24
ENST00000700022.1:c.*32del ENSP00000514758.1:n.*32del
ENST00000700023.1:n.1851del
ENST00000700024.1:n.2085del
ENST00000700025.1:n.1462del
ENST00000700026.1:n.330del
ENST00000700029.1:c.527del
ENST00000706954.1:c.693del ENSP00000516674.1:p.Thr232HisfsTer24
ENST00000706955.1:c.*728del ENSP00000516675.1:n.*728del
ENST00000686459.1:c.*279del ENSP00000508909.1:n.*279del
ENST00000688158.1:c.*804del ENSP00000509254.1:n.*804del
ENST00000688308.1:c.693del ENSP00000508752.1:p.Thr232HisfsTer24
ENST00000688922.1:c.614del
ENST00000693560.1:c.1212del ENSP00000509861.1:p.Thr405HisfsTer24
ENST00000371953.8:c.693del MANE Select ENSP00000361021.3:p.Thr232HisfsTer24
ENST00000371953.7:c.693del ENSP00000361021.3:p.Thr232HisfsTer24
ENST00000472832.2:c.120del ENSP00000483066.1:p.Thr41HisfsTer24
NM_000314.5:c.693del NP_000305.3:p.Thr232HisfsTer24
NM_000314.6:c.693del NP_000305.3:p.Thr232HisfsTer24
NM_001304717.2:c.1212del NP_001291646.2:p.Thr405HisfsTer24
NM_001304718.1:c.102del NP_001291647.1:p.Thr35HisfsTer24
XM_006717926.2:c.648del XP_006717989.1:p.Thr217HisfsTer24
XM_011539981.1:c.693del XP_011538283.1:p.Thr232HisfsTer24
XM_011539982.1:c.597del XP_011538284.1:p.Thr200HisfsTer24
XR_945791.1:n.1263del
NM_000314.7:c.693del NP_000305.3:p.Thr232HisfsTer24
NM_001304717.5:c.1212del NP_001291646.4:p.Thr405HisfsTer24
NM_001304718.2:c.102del NP_001291647.1:p.Thr35HisfsTer24
NM_000314.8:c.693del MANE Select NP_000305.3:p.Thr232HisfsTer24