Canonical Allele Identifier: CA2579926816
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957993_87957995delinsGCT , CM000672.2:g.87957993_87957995delinsGCT GRCh38
NC_000010.10:g.89717750_89717752delinsGCT , CM000672.1:g.89717750_89717752delinsGCT GRCh37
NC_000010.9:g.89707730_89707732delinsGCT NCBI36
NG_007466.2:g.99555_99557delinsGCT , LRG_311:g.99555_99557delinsGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.775_777delinsGCT ENSP00000514759.2:p.His259Ala
ENST00000710265.1:c.775_777delinsGCT ENSP00000518161.1:p.His259Ala
ENST00000472832.3:c.775_777delinsGCT ENSP00000483066.2:p.His259Ala
ENST00000688158.2:n.1510_1512delinsGCT
ENST00000688922.2:c.*605_*607delinsGCT ENSP00000508742.2:n.*605_*607delinsGCT
ENST00000700021.1:c.730_732delinsGCT ENSP00000514757.1:p.His244Ala
ENST00000700022.1:c.*114_*116delinsGCT ENSP00000514758.1:n.*114_*116delinsGCT
ENST00000700023.1:n.1933_1935delinsGCT
ENST00000700024.1:n.2167_2169delinsGCT
ENST00000700025.1:n.1544_1546delinsGCT
ENST00000700026.1:n.412_414delinsGCT
ENST00000700029.1:c.609_611delinsGCT
ENST00000706954.1:c.775_777delinsGCT ENSP00000516674.1:p.His259Ala
ENST00000706955.1:c.*810_*812delinsGCT ENSP00000516675.1:n.*810_*812delinsGCT
ENST00000686459.1:c.*361_*363delinsGCT ENSP00000508909.1:n.*361_*363delinsGCT
ENST00000688158.1:c.*886_*888delinsGCT ENSP00000509254.1:n.*886_*888delinsGCT
ENST00000688308.1:c.775_777delinsGCT ENSP00000508752.1:p.His259Ala
ENST00000688922.1:c.696_698delinsGCT
ENST00000693560.1:c.1294_1296delinsGCT ENSP00000509861.1:p.His432Ala
ENST00000371953.8:c.775_777delinsGCT MANE Select ENSP00000361021.3:p.His259Ala
ENST00000371953.7:c.775_777delinsGCT ENSP00000361021.3:p.His259Ala
ENST00000472832.2:c.202_204delinsGCT ENSP00000483066.1:p.His68Ala
NM_000314.5:c.775_777delinsGCT NP_000305.3:p.His259Ala
NM_000314.6:c.775_777delinsGCT NP_000305.3:p.His259Ala
NM_001304717.2:c.1294_1296delinsGCT NP_001291646.2:p.His432Ala
NM_001304718.1:c.184_186delinsGCT NP_001291647.1:p.His62Ala
XM_006717926.2:c.730_732delinsGCT XP_006717989.1:p.His244Ala
XM_011539981.1:c.775_777delinsGCT XP_011538283.1:p.His259Ala
XM_011539982.1:c.679_681delinsGCT XP_011538284.1:p.His227Ala
XR_945791.1:n.1345_1347delinsGCT
NM_000314.7:c.775_777delinsGCT NP_000305.3:p.His259Ala
NM_001304717.5:c.1294_1296delinsGCT NP_001291646.4:p.His432Ala
NM_001304718.2:c.184_186delinsGCT NP_001291647.1:p.His62Ala
NM_000314.8:c.775_777delinsGCT MANE Select NP_000305.3:p.His259Ala