Canonical Allele Identifier: CA891840967
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958011_87958012delinsGC , CM000672.2:g.87958011_87958012delinsGC GRCh38
NC_000010.10:g.89717768_89717769delinsGC , CM000672.1:g.89717768_89717769delinsGC GRCh37
NC_000010.9:g.89707748_89707749delinsGC NCBI36
NG_007466.2:g.99573_99574delinsGC , LRG_311:g.99573_99574delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.793_794delinsGC ENSP00000514759.2:p.Leu265Ala
ENST00000710265.1:c.793_794delinsGC ENSP00000518161.1:p.Leu265Ala
ENST00000472832.3:c.793_794delinsGC ENSP00000483066.2:p.Leu265Ala
ENST00000688158.2:n.1528_1529delinsGC
ENST00000688922.2:c.*623_*624delinsGC ENSP00000508742.2:n.*623_*624delinsGC
ENST00000700021.1:c.748_749delinsGC ENSP00000514757.1:p.Leu250Ala
ENST00000700022.1:c.*132_*133delinsGC ENSP00000514758.1:n.*132_*133delinsGC
ENST00000700023.1:n.1951_1952delinsGC
ENST00000700024.1:n.2185_2186delinsGC
ENST00000700025.1:n.1562_1563delinsGC
ENST00000700026.1:n.430_431delinsGC
ENST00000700029.1:c.627_628delinsGC
ENST00000706954.1:c.793_794delinsGC ENSP00000516674.1:p.Leu265Ala
ENST00000706955.1:c.*828_*829delinsGC ENSP00000516675.1:n.*828_*829delinsGC
ENST00000686459.1:c.*379_*380delinsGC ENSP00000508909.1:n.*379_*380delinsGC
ENST00000688158.1:c.*904_*905delinsGC ENSP00000509254.1:n.*904_*905delinsGC
ENST00000688308.1:c.793_794delinsGC ENSP00000508752.1:p.Leu265Ala
ENST00000688922.1:c.714_715delinsGC
ENST00000693560.1:c.1312_1313delinsGC ENSP00000509861.1:p.Leu438Ala
ENST00000371953.8:c.793_794delinsGC MANE Select ENSP00000361021.3:p.Leu265Ala
ENST00000371953.7:c.793_794delinsGC ENSP00000361021.3:p.Leu265Ala
ENST00000472832.2:c.220_221delinsGC ENSP00000483066.1:p.Leu74Ala
NM_000314.5:c.793_794delinsGC NP_000305.3:p.Leu265Ala
NM_000314.6:c.793_794delinsGC NP_000305.3:p.Leu265Ala
NM_001304717.2:c.1312_1313delinsGC NP_001291646.2:p.Leu438Ala
NM_001304718.1:c.202_203delinsGC NP_001291647.1:p.Leu68Ala
XM_006717926.2:c.748_749delinsGC XP_006717989.1:p.Leu250Ala
XM_011539981.1:c.793_794delinsGC XP_011538283.1:p.Leu265Ala
XM_011539982.1:c.697_698delinsGC XP_011538284.1:p.Leu233Ala
XR_945791.1:n.1363_1364delinsGC
NM_000314.7:c.793_794delinsGC NP_000305.3:p.Leu265Ala
NM_001304717.5:c.1312_1313delinsGC NP_001291646.4:p.Leu438Ala
NM_001304718.2:c.202_203delinsGC NP_001291647.1:p.Leu68Ala
NM_000314.8:c.793_794delinsGC MANE Select NP_000305.3:p.Leu265Ala