Canonical Allele Identifier: CA645559015
Gene: PTEN HGNC NCBI

Linked Data

COSMIC: COSM921062

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894065_87894068del , CM000672.2:g.87894065_87894068del GRCh38
NC_000010.10:g.89653822_89653825del , CM000672.1:g.89653822_89653825del GRCh37
NC_000010.9:g.89643802_89643805del NCBI36
NG_007466.2:g.35627_35630del , LRG_311:g.35627_35630del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.120_123del ENSP00000514759.2:p.Glu40AspfsTer13
ENST00000710265.1:c.120_123del ENSP00000518161.1:p.Glu40AspfsTer13
ENST00000472832.3:c.120_123del ENSP00000483066.2:p.Glu40AspfsTer13
ENST00000688158.2:n.899+13627_899+13630del
ENST00000688922.2:c.120_123del ENSP00000508742.2:p.Glu40AspfsTer13
ENST00000700021.1:c.120_123del ENSP00000514757.1:p.Glu40AspfsTer13
ENST00000700022.1:c.120_123del ENSP00000514758.1:p.Glu40AspfsTer13
ENST00000706954.1:c.120_123del ENSP00000516674.1:p.Glu40AspfsTer13
ENST00000706955.1:c.*155_*158del ENSP00000516675.1:n.*155_*158del
ENST00000686459.1:c.120_123del ENSP00000508909.1:p.Glu40AspfsTer13
ENST00000688158.1:c.*275+13627_*275+13630del ENSP00000509254.1:n.*275+13627_*275+13630del
ENST00000688308.1:c.120_123del ENSP00000508752.1:p.Glu40AspfsTer13
ENST00000693560.1:c.639_642del ENSP00000509861.1:p.Glu213AspfsTer13
ENST00000371953.8:c.120_123del MANE Select ENSP00000361021.3:p.Glu40AspfsTer13
ENST00000371953.7:c.120_123del ENSP00000361021.3:p.Glu40AspfsTer13
ENST00000462694.1:n.122_125del
ENST00000610634.1:c.18_21del ENSP00000477517.1:p.Glu6AspfsTer13
NM_000314.5:c.120_123del NP_000305.3:p.Glu40AspfsTer13
NM_000314.6:c.120_123del NP_000305.3:p.Glu40AspfsTer13
NM_001304717.2:c.639_642del NP_001291646.2:p.Glu213AspfsTer13
NM_001304718.1:c.-586_-583del NP_001291647.1:n.-586_-583del
XM_006717926.2:c.120_123del XP_006717989.1:p.Glu40AspfsTer13
XM_011539981.1:c.120_123del XP_011538283.1:p.Glu40AspfsTer13
XM_011539982.1:c.68+13627_68+13630del XP_011538284.1:n.68+13627_68+13630del
XR_945789.1:n.832_835del
XR_945790.1:n.832_835del
XR_945791.1:n.832_835del
NM_000314.7:c.120_123del NP_000305.3:p.Glu40AspfsTer13
NM_001304717.5:c.639_642del NP_001291646.4:p.Glu213AspfsTer13
NM_001304718.2:c.-586_-583del NP_001291647.1:n.-586_-583del
NM_000314.8:c.120_123del MANE Select NP_000305.3:p.Glu40AspfsTer13