Canonical Allele Identifier: CA2579926463
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965407_87965409delinsCAA , CM000672.2:g.87965407_87965409delinsCAA GRCh38
NC_000010.10:g.89725164_89725166delinsCAA , CM000672.1:g.89725164_89725166delinsCAA GRCh37
NC_000010.9:g.89715144_89715146delinsCAA NCBI36
NG_007466.2:g.106969_106971delinsCAA , LRG_311:g.106969_106971delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1240_1242delinsCAA ENSP00000514759.2:p.Thr414Gln
ENST00000710265.1:c.*176_*178delinsCAA ENSP00000518161.1:n.*176_*178delinsCAA
ENST00000688158.2:n.1882_1884delinsCAA
ENST00000688922.2:c.*977_*979delinsCAA ENSP00000508742.2:n.*977_*979delinsCAA
ENST00000700021.1:c.1102_1104delinsCAA ENSP00000514757.1:p.Thr368Gln
ENST00000700022.1:c.*486_*488delinsCAA ENSP00000514758.1:n.*486_*488delinsCAA
ENST00000700023.1:n.2305_2307delinsCAA
ENST00000700024.1:n.2539_2541delinsCAA
ENST00000706954.1:c.1147_1149delinsCAA ENSP00000516674.1:p.Thr383Gln
ENST00000706955.1:c.*1182_*1184delinsCAA ENSP00000516675.1:n.*1182_*1184delinsCAA
ENST00000686459.1:c.*733_*735delinsCAA ENSP00000508909.1:n.*733_*735delinsCAA
ENST00000688158.1:c.*1258_*1260delinsCAA ENSP00000509254.1:n.*1258_*1260delinsCAA
ENST00000688308.1:c.1147_1149delinsCAA ENSP00000508752.1:p.Thr383Gln
ENST00000688922.1:c.1068_1070delinsCAA
ENST00000693560.1:c.1666_1668delinsCAA ENSP00000509861.1:p.Thr556Gln
ENST00000371953.8:c.1147_1149delinsCAA MANE Select ENSP00000361021.3:p.Thr383Gln
ENST00000371953.7:c.1147_1149delinsCAA ENSP00000361021.3:p.Thr383Gln
NM_000314.5:c.1147_1149delinsCAA NP_000305.3:p.Thr383Gln
NM_000314.6:c.1147_1149delinsCAA NP_000305.3:p.Thr383Gln
NM_001304717.2:c.1666_1668delinsCAA NP_001291646.2:p.Thr556Gln
NM_001304718.1:c.556_558delinsCAA NP_001291647.1:p.Thr186Gln
XM_006717926.2:c.1102_1104delinsCAA XP_006717989.1:p.Thr368Gln
XM_011539982.1:c.1051_1053delinsCAA XP_011538284.1:p.Thr351Gln
XR_945791.1:n.1717_1719delinsCAA
NM_000314.7:c.1147_1149delinsCAA NP_000305.3:p.Thr383Gln
NM_001304717.5:c.1666_1668delinsCAA NP_001291646.4:p.Thr556Gln
NM_001304718.2:c.556_558delinsCAA NP_001291647.1:p.Thr186Gln
NM_000314.8:c.1147_1149delinsCAA MANE Select NP_000305.3:p.Thr383Gln