Canonical Allele Identifier: CA2579926973
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933248_87933250del , CM000672.2:g.87933248_87933250del GRCh38
NC_000010.10:g.89693005_89693007del , CM000672.1:g.89693005_89693007del GRCh37
NC_000010.9:g.89682985_89682987del NCBI36
NG_007466.2:g.74810_74812del , LRG_311:g.74810_74812del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.489_491del ENSP00000514759.2:p.Lys164del
ENST00000710265.1:c.489_491del ENSP00000518161.1:p.Lys164del
ENST00000472832.3:c.489_491del ENSP00000483066.2:p.Lys164del
ENST00000688158.2:n.1224_1226del
ENST00000688922.2:c.*319_*321del ENSP00000508742.2:n.*319_*321del
ENST00000700021.1:c.444_446del ENSP00000514757.1:p.Lys149del
ENST00000700022.1:c.489_491del ENSP00000514758.1:p.Lys164del
ENST00000700029.1:c.323_325del
ENST00000706954.1:c.489_491del ENSP00000516674.1:p.Lys164del
ENST00000706955.1:c.*524_*526del ENSP00000516675.1:n.*524_*526del
ENST00000686459.1:c.489_491del ENSP00000508909.1:p.Lys164del
ENST00000688158.1:c.*600_*602del ENSP00000509254.1:n.*600_*602del
ENST00000688308.1:c.489_491del ENSP00000508752.1:p.Lys164del
ENST00000688922.1:c.410_412del
ENST00000693560.1:c.1008_1010del ENSP00000509861.1:p.Lys337del
ENST00000371953.8:c.489_491del MANE Select ENSP00000361021.3:p.Lys164del
ENST00000371953.7:c.489_491del ENSP00000361021.3:p.Lys164del
ENST00000498703.1:n.315_317del
ENST00000610634.1:c.387_389del ENSP00000477517.1:p.Lys130del
NM_000314.5:c.489_491del NP_000305.3:p.Lys164del
NM_000314.6:c.489_491del NP_000305.3:p.Lys164del
NM_001304717.2:c.1008_1010del NP_001291646.2:p.Lys337del
NM_001304718.1:c.-262_-260del NP_001291647.1:n.-262_-260del
XM_006717926.2:c.444_446del XP_006717989.1:p.Lys149del
XM_011539981.1:c.489_491del XP_011538283.1:p.Lys164del
XM_011539982.1:c.393_395del XP_011538284.1:p.Lys132del
XR_945789.1:n.1201_1203del
XR_945790.1:n.1201_1203del
XR_945791.1:n.1201_1203del
NM_000314.7:c.489_491del NP_000305.3:p.Lys164del
NM_001304717.5:c.1008_1010del NP_001291646.4:p.Lys337del
NM_001304718.2:c.-262_-260del NP_001291647.1:n.-262_-260del
NM_000314.8:c.489_491del MANE Select NP_000305.3:p.Lys164del