Canonical Allele Identifier: CA2579927049
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933066_87933068del , CM000672.2:g.87933066_87933068del GRCh38
NC_000010.10:g.89692823_89692825del , CM000672.1:g.89692823_89692825del GRCh37
NC_000010.9:g.89682803_89682805del NCBI36
NG_007466.2:g.74628_74630del , LRG_311:g.74628_74630del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.307_309del ENSP00000514759.2:p.Pro103del
ENST00000710265.1:c.307_309del ENSP00000518161.1:p.Pro103del
ENST00000472832.3:c.307_309del ENSP00000483066.2:p.Pro103del
ENST00000688158.2:n.1042_1044del
ENST00000688922.2:c.*137_*139del ENSP00000508742.2:n.*137_*139del
ENST00000700021.1:c.262_264del ENSP00000514757.1:p.Pro88del
ENST00000700022.1:c.307_309del ENSP00000514758.1:p.Pro103del
ENST00000700029.1:c.141_143del
ENST00000706954.1:c.307_309del ENSP00000516674.1:p.Pro103del
ENST00000706955.1:c.*342_*344del ENSP00000516675.1:n.*342_*344del
ENST00000686459.1:c.307_309del ENSP00000508909.1:p.Pro103del
ENST00000688158.1:c.*418_*420del ENSP00000509254.1:n.*418_*420del
ENST00000688308.1:c.307_309del ENSP00000508752.1:p.Pro103del
ENST00000688922.1:c.228_230del
ENST00000693560.1:c.826_828del ENSP00000509861.1:p.Pro276del
ENST00000371953.8:c.307_309del MANE Select ENSP00000361021.3:p.Pro103del
ENST00000371953.7:c.307_309del ENSP00000361021.3:p.Pro103del
ENST00000498703.1:n.133_135del
ENST00000610634.1:c.205_207del ENSP00000477517.1:p.Pro69del
NM_000314.5:c.307_309del NP_000305.3:p.Pro103del
NM_000314.6:c.307_309del NP_000305.3:p.Pro103del
NM_001304717.2:c.826_828del NP_001291646.2:p.Pro276del
NM_001304718.1:c.-444_-442del NP_001291647.1:n.-444_-442del
XM_006717926.2:c.262_264del XP_006717989.1:p.Pro88del
XM_011539981.1:c.307_309del XP_011538283.1:p.Pro103del
XM_011539982.1:c.211_213del XP_011538284.1:p.Pro71del
XR_945789.1:n.1019_1021del
XR_945790.1:n.1019_1021del
XR_945791.1:n.1019_1021del
NM_000314.7:c.307_309del NP_000305.3:p.Pro103del
NM_001304717.5:c.826_828del NP_001291646.4:p.Pro276del
NM_001304718.2:c.-444_-442del NP_001291647.1:n.-444_-442del
NM_000314.8:c.307_309del MANE Select NP_000305.3:p.Pro103del