Canonical Allele Identifier: CA645554064
Gene: PTEN HGNC NCBI

Linked Data

COSMIC: COSM921133

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957997_87957998del , CM000672.2:g.87957997_87957998del GRCh38
NC_000010.10:g.89717754_89717755del , CM000672.1:g.89717754_89717755del GRCh37
NC_000010.9:g.89707734_89707735del NCBI36
NG_007466.2:g.99559_99560del , LRG_311:g.99559_99560del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.779_780del ENSP00000514759.2:p.Lys260ThrfsTer?
ENST00000710265.1:c.779_780del ENSP00000518161.1:p.Lys260ThrfsTer?
ENST00000472832.3:c.779_780del ENSP00000483066.2:p.Lys260ThrfsTer?
ENST00000688158.2:n.1514_1515del
ENST00000688922.2:c.*609_*610del ENSP00000508742.2:n.*609_*610del
ENST00000700021.1:c.734_735del ENSP00000514757.1:p.Lys245ThrfsTer?
ENST00000700022.1:c.*118_*119del ENSP00000514758.1:n.*118_*119del
ENST00000700023.1:n.1937_1938del
ENST00000700024.1:n.2171_2172del
ENST00000700025.1:n.1548_1549del
ENST00000700026.1:n.416_417del
ENST00000700029.1:c.613_614del
ENST00000706954.1:c.779_780del ENSP00000516674.1:p.Lys260ThrfsTer?
ENST00000706955.1:c.*814_*815del ENSP00000516675.1:n.*814_*815del
ENST00000686459.1:c.*365_*366del ENSP00000508909.1:n.*365_*366del
ENST00000688158.1:c.*890_*891del ENSP00000509254.1:n.*890_*891del
ENST00000688308.1:c.779_780del ENSP00000508752.1:p.Lys260ThrfsTer?
ENST00000688922.1:c.700_701del
ENST00000693560.1:c.1298_1299del ENSP00000509861.1:p.Lys433ThrfsTer?
ENST00000371953.8:c.779_780del MANE Select ENSP00000361021.3:p.Lys260ThrfsTer?
ENST00000371953.7:c.779_780del ENSP00000361021.3:p.Lys260ThrfsTer?
ENST00000472832.2:c.206_207del ENSP00000483066.1:p.Lys69ThrfsTer?
NM_000314.5:c.779_780del NP_000305.3:p.Lys260ThrfsTer?
NM_000314.6:c.779_780del NP_000305.3:p.Lys260ThrfsTer?
NM_001304717.2:c.1298_1299del NP_001291646.2:p.Lys433ThrfsTer?
NM_001304718.1:c.188_189del NP_001291647.1:p.Lys63ThrfsTer?
XM_006717926.2:c.734_735del XP_006717989.1:p.Lys245ThrfsTer?
XM_011539981.1:c.779_780del XP_011538283.1:p.Lys260ThrfsTer?
XM_011539982.1:c.683_684del XP_011538284.1:p.Lys228ThrfsTer?
XR_945791.1:n.1349_1350del
NM_000314.7:c.779_780del NP_000305.3:p.Lys260ThrfsTer?
NM_001304717.5:c.1298_1299del NP_001291646.4:p.Lys433ThrfsTer?
NM_001304718.2:c.188_189del NP_001291647.1:p.Lys63ThrfsTer?
NM_000314.8:c.779_780del MANE Select NP_000305.3:p.Lys260ThrfsTer?