Canonical Allele Identifier: CA645553839
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933164_87933182del , CM000672.2:g.87933164_87933182del GRCh38
NC_000010.10:g.89692921_89692939del , CM000672.1:g.89692921_89692939del GRCh37
NC_000010.9:g.89682901_89682919del NCBI36
NG_007466.2:g.74726_74744del , LRG_311:g.74726_74744del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.405_423del ENSP00000514759.2:p.Cys136GlyfsTer5
ENST00000710265.1:c.405_423del ENSP00000518161.1:p.Cys136GlyfsTer5
ENST00000472832.3:c.405_423del ENSP00000483066.2:p.Cys136GlyfsTer5
ENST00000688158.2:n.1140_1158del
ENST00000688922.2:c.*235_*253del ENSP00000508742.2:n.*235_*253del
ENST00000700021.1:c.360_378del ENSP00000514757.1:p.Cys121GlyfsTer5
ENST00000700022.1:c.405_423del ENSP00000514758.1:p.Cys136GlyfsTer5
ENST00000700029.1:c.239_257del
ENST00000706954.1:c.405_423del ENSP00000516674.1:p.Cys136GlyfsTer5
ENST00000706955.1:c.*440_*458del ENSP00000516675.1:n.*440_*458del
ENST00000686459.1:c.405_423del ENSP00000508909.1:p.Cys136GlyfsTer5
ENST00000688158.1:c.*516_*534del ENSP00000509254.1:n.*516_*534del
ENST00000688308.1:c.405_423del ENSP00000508752.1:p.Cys136GlyfsTer5
ENST00000688922.1:c.326_344del
ENST00000693560.1:c.924_942del ENSP00000509861.1:p.Cys309GlyfsTer5
ENST00000371953.8:c.405_423del MANE Select ENSP00000361021.3:p.Cys136GlyfsTer5
ENST00000371953.7:c.405_423del ENSP00000361021.3:p.Cys136GlyfsTer5
ENST00000498703.1:n.231_249del
ENST00000610634.1:c.303_321del ENSP00000477517.1:p.Cys102GlyfsTer5
NM_000314.5:c.405_423del NP_000305.3:p.Cys136GlyfsTer5
NM_000314.6:c.405_423del NP_000305.3:p.Cys136GlyfsTer5
NM_001304717.2:c.924_942del NP_001291646.2:p.Cys309GlyfsTer5
NM_001304718.1:c.-346_-328del NP_001291647.1:n.-346_-328del
XM_006717926.2:c.360_378del XP_006717989.1:p.Cys121GlyfsTer5
XM_011539981.1:c.405_423del XP_011538283.1:p.Cys136GlyfsTer5
XM_011539982.1:c.309_327del XP_011538284.1:p.Cys104GlyfsTer5
XR_945789.1:n.1117_1135del
XR_945790.1:n.1117_1135del
XR_945791.1:n.1117_1135del
NM_000314.7:c.405_423del NP_000305.3:p.Cys136GlyfsTer5
NM_001304717.5:c.924_942del NP_001291646.4:p.Cys309GlyfsTer5
NM_001304718.2:c.-346_-328del NP_001291647.1:n.-346_-328del
NM_000314.8:c.405_423del MANE Select NP_000305.3:p.Cys136GlyfsTer5