Canonical Allele Identifier: CA2579927015
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933165_87933167del , CM000672.2:g.87933165_87933167del GRCh38
NC_000010.10:g.89692922_89692924del , CM000672.1:g.89692922_89692924del GRCh37
NC_000010.9:g.89682902_89682904del NCBI36
NG_007466.2:g.74727_74729del , LRG_311:g.74727_74729del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.406_408del ENSP00000514759.2:p.Cys136del
ENST00000710265.1:c.406_408del ENSP00000518161.1:p.Cys136del
ENST00000472832.3:c.406_408del ENSP00000483066.2:p.Cys136del
ENST00000688158.2:n.1141_1143del
ENST00000688922.2:c.*236_*238del ENSP00000508742.2:n.*236_*238del
ENST00000700021.1:c.361_363del ENSP00000514757.1:p.Cys121del
ENST00000700022.1:c.406_408del ENSP00000514758.1:p.Cys136del
ENST00000700029.1:c.240_242del
ENST00000706954.1:c.406_408del ENSP00000516674.1:p.Cys136del
ENST00000706955.1:c.*441_*443del ENSP00000516675.1:n.*441_*443del
ENST00000686459.1:c.406_408del ENSP00000508909.1:p.Cys136del
ENST00000688158.1:c.*517_*519del ENSP00000509254.1:n.*517_*519del
ENST00000688308.1:c.406_408del ENSP00000508752.1:p.Cys136del
ENST00000688922.1:c.327_329del
ENST00000693560.1:c.925_927del ENSP00000509861.1:p.Cys309del
ENST00000371953.8:c.406_408del MANE Select ENSP00000361021.3:p.Cys136del
ENST00000371953.7:c.406_408del ENSP00000361021.3:p.Cys136del
ENST00000498703.1:n.232_234del
ENST00000610634.1:c.304_306del ENSP00000477517.1:p.Cys102del
NM_000314.5:c.406_408del NP_000305.3:p.Cys136del
NM_000314.6:c.406_408del NP_000305.3:p.Cys136del
NM_001304717.2:c.925_927del NP_001291646.2:p.Cys309del
NM_001304718.1:c.-345_-343del NP_001291647.1:n.-345_-343del
XM_006717926.2:c.361_363del XP_006717989.1:p.Cys121del
XM_011539981.1:c.406_408del XP_011538283.1:p.Cys136del
XM_011539982.1:c.310_312del XP_011538284.1:p.Cys104del
XR_945789.1:n.1118_1120del
XR_945790.1:n.1118_1120del
XR_945791.1:n.1118_1120del
NM_000314.7:c.406_408del NP_000305.3:p.Cys136del
NM_001304717.5:c.925_927del NP_001291646.4:p.Cys309del
NM_001304718.2:c.-345_-343del NP_001291647.1:n.-345_-343del
NM_000314.8:c.406_408del MANE Select NP_000305.3:p.Cys136del