Canonical Allele Identifier: CA891836697
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961062_87961064delinsCAA , CM000672.2:g.87961062_87961064delinsCAA GRCh38
NC_000010.10:g.89720819_89720821delinsCAA , CM000672.1:g.89720819_89720821delinsCAA GRCh37
NC_000010.9:g.89710799_89710801delinsCAA NCBI36
NG_007466.2:g.102624_102626delinsCAA , LRG_311:g.102624_102626delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1063_1065delinsCAA ENSP00000514759.2:p.Asp355Gln
ENST00000710265.1:c.970_972delinsCAA ENSP00000518161.1:p.Asp324Gln
ENST00000472832.3:c.970_972delinsCAA ENSP00000483066.2:p.Asp324Gln
ENST00000688158.2:n.1705_1707delinsCAA
ENST00000688922.2:c.*800_*802delinsCAA ENSP00000508742.2:n.*800_*802delinsCAA
ENST00000700021.1:c.925_927delinsCAA ENSP00000514757.1:p.Asp309Gln
ENST00000700022.1:c.*309_*311delinsCAA ENSP00000514758.1:n.*309_*311delinsCAA
ENST00000700023.1:n.2128_2130delinsCAA
ENST00000700024.1:n.2362_2364delinsCAA
ENST00000700025.1:n.1739_1741delinsCAA
ENST00000700026.1:n.607_609delinsCAA
ENST00000706954.1:c.970_972delinsCAA ENSP00000516674.1:p.Asp324Gln
ENST00000706955.1:c.*1005_*1007delinsCAA ENSP00000516675.1:n.*1005_*1007delinsCAA
ENST00000686459.1:c.*556_*558delinsCAA ENSP00000508909.1:n.*556_*558delinsCAA
ENST00000688158.1:c.*1081_*1083delinsCAA ENSP00000509254.1:n.*1081_*1083delinsCAA
ENST00000688308.1:c.970_972delinsCAA ENSP00000508752.1:p.Asp324Gln
ENST00000688922.1:c.891_893delinsCAA
ENST00000693560.1:c.1489_1491delinsCAA ENSP00000509861.1:p.Asp497Gln
ENST00000371953.8:c.970_972delinsCAA MANE Select ENSP00000361021.3:p.Asp324Gln
ENST00000371953.7:c.970_972delinsCAA ENSP00000361021.3:p.Asp324Gln
ENST00000472832.2:c.397_399delinsCAA ENSP00000483066.1:p.Asp133Gln
NM_000314.5:c.970_972delinsCAA NP_000305.3:p.Asp324Gln
NM_000314.6:c.970_972delinsCAA NP_000305.3:p.Asp324Gln
NM_001304717.2:c.1489_1491delinsCAA NP_001291646.2:p.Asp497Gln
NM_001304718.1:c.379_381delinsCAA NP_001291647.1:p.Asp127Gln
XM_006717926.2:c.925_927delinsCAA XP_006717989.1:p.Asp309Gln
XM_011539981.1:c.970_972delinsCAA XP_011538283.1:p.Asp324Gln
XM_011539982.1:c.874_876delinsCAA XP_011538284.1:p.Asp292Gln
XR_945791.1:n.1540_1542delinsCAA
NM_000314.7:c.970_972delinsCAA NP_000305.3:p.Asp324Gln
NM_001304717.5:c.1489_1491delinsCAA NP_001291646.4:p.Asp497Gln
NM_001304718.2:c.379_381delinsCAA NP_001291647.1:p.Asp127Gln
NM_000314.8:c.970_972delinsCAA MANE Select NP_000305.3:p.Asp324Gln