Canonical Allele Identifier: CA2579927141
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933087_87933089del , CM000672.2:g.87933087_87933089del GRCh38
NC_000010.10:g.89692844_89692846del , CM000672.1:g.89692844_89692846del GRCh37
NC_000010.9:g.89682824_89682826del NCBI36
NG_007466.2:g.74649_74651del , LRG_311:g.74649_74651del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.328_330del ENSP00000514759.2:p.Gln110del
ENST00000710265.1:c.328_330del ENSP00000518161.1:p.Gln110del
ENST00000472832.3:c.328_330del ENSP00000483066.2:p.Gln110del
ENST00000688158.2:n.1063_1065del
ENST00000688922.2:c.*158_*160del ENSP00000508742.2:n.*158_*160del
ENST00000700021.1:c.283_285del ENSP00000514757.1:p.Gln95del
ENST00000700022.1:c.328_330del ENSP00000514758.1:p.Gln110del
ENST00000700029.1:c.162_164del
ENST00000706954.1:c.328_330del ENSP00000516674.1:p.Gln110del
ENST00000706955.1:c.*363_*365del ENSP00000516675.1:n.*363_*365del
ENST00000686459.1:c.328_330del ENSP00000508909.1:p.Gln110del
ENST00000688158.1:c.*439_*441del ENSP00000509254.1:n.*439_*441del
ENST00000688308.1:c.328_330del ENSP00000508752.1:p.Gln110del
ENST00000688922.1:c.249_251del
ENST00000693560.1:c.847_849del ENSP00000509861.1:p.Gln283del
ENST00000371953.8:c.328_330del MANE Select ENSP00000361021.3:p.Gln110del
ENST00000371953.7:c.328_330del ENSP00000361021.3:p.Gln110del
ENST00000498703.1:n.154_156del
ENST00000610634.1:c.226_228del ENSP00000477517.1:p.Gln76del
NM_000314.5:c.328_330del NP_000305.3:p.Gln110del
NM_000314.6:c.328_330del NP_000305.3:p.Gln110del
NM_001304717.2:c.847_849del NP_001291646.2:p.Gln283del
NM_001304718.1:c.-423_-421del NP_001291647.1:n.-423_-421del
XM_006717926.2:c.283_285del XP_006717989.1:p.Gln95del
XM_011539981.1:c.328_330del XP_011538283.1:p.Gln110del
XM_011539982.1:c.232_234del XP_011538284.1:p.Gln78del
XR_945789.1:n.1040_1042del
XR_945790.1:n.1040_1042del
XR_945791.1:n.1040_1042del
NM_000314.7:c.328_330del NP_000305.3:p.Gln110del
NM_001304717.5:c.847_849del NP_001291646.4:p.Gln283del
NM_001304718.2:c.-423_-421del NP_001291647.1:n.-423_-421del
NM_000314.8:c.328_330del MANE Select NP_000305.3:p.Gln110del