Canonical Allele Identifier: CA2579926735
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960927_87960929del , CM000672.2:g.87960927_87960929del GRCh38
NC_000010.10:g.89720684_89720686del , CM000672.1:g.89720684_89720686del GRCh37
NC_000010.9:g.89710664_89710666del NCBI36
NG_007466.2:g.102489_102491del , LRG_311:g.102489_102491del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.928_930del ENSP00000514759.2:p.Phe310del
ENST00000710265.1:c.835_837del ENSP00000518161.1:p.Phe279del
ENST00000472832.3:c.835_837del ENSP00000483066.2:p.Phe279del
ENST00000688158.2:n.1570_1572del
ENST00000688922.2:c.*665_*667del ENSP00000508742.2:n.*665_*667del
ENST00000700021.1:c.790_792del ENSP00000514757.1:p.Phe264del
ENST00000700022.1:c.*174_*176del ENSP00000514758.1:n.*174_*176del
ENST00000700023.1:n.1993_1995del
ENST00000700024.1:n.2227_2229del
ENST00000700025.1:n.1604_1606del
ENST00000700026.1:n.472_474del
ENST00000700029.1:c.762_764del
ENST00000706954.1:c.835_837del ENSP00000516674.1:p.Phe279del
ENST00000706955.1:c.*870_*872del ENSP00000516675.1:n.*870_*872del
ENST00000686459.1:c.*421_*423del ENSP00000508909.1:n.*421_*423del
ENST00000688158.1:c.*946_*948del ENSP00000509254.1:n.*946_*948del
ENST00000688308.1:c.835_837del ENSP00000508752.1:p.Phe279del
ENST00000688922.1:c.756_758del
ENST00000693560.1:c.1354_1356del ENSP00000509861.1:p.Phe452del
ENST00000371953.8:c.835_837del MANE Select ENSP00000361021.3:p.Phe279del
ENST00000371953.7:c.835_837del ENSP00000361021.3:p.Phe279del
ENST00000472832.2:c.262_264del ENSP00000483066.1:p.Phe88del
NM_000314.5:c.835_837del NP_000305.3:p.Phe279del
NM_000314.6:c.835_837del NP_000305.3:p.Phe279del
NM_001304717.2:c.1354_1356del NP_001291646.2:p.Phe452del
NM_001304718.1:c.244_246del NP_001291647.1:p.Phe82del
XM_006717926.2:c.790_792del XP_006717989.1:p.Phe264del
XM_011539981.1:c.835_837del XP_011538283.1:p.Phe279del
XM_011539982.1:c.739_741del XP_011538284.1:p.Phe247del
XR_945791.1:n.1405_1407del
NM_000314.7:c.835_837del NP_000305.3:p.Phe279del
NM_001304717.5:c.1354_1356del NP_001291646.4:p.Phe452del
NM_001304718.2:c.244_246del NP_001291647.1:p.Phe82del
NM_000314.8:c.835_837del MANE Select NP_000305.3:p.Phe279del