Canonical Allele Identifier: CA2579926544
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965287_87965289delinsACT , CM000672.2:g.87965287_87965289delinsACT GRCh38
NC_000010.10:g.89725044_89725046delinsACT , CM000672.1:g.89725044_89725046delinsACT GRCh37
NC_000010.9:g.89715024_89715026delinsACT NCBI36
NG_007466.2:g.106849_106851delinsACT , LRG_311:g.106849_106851delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1120_1122delinsACT ENSP00000514759.2:p.Val374Thr
ENST00000710265.1:c.*56_*58delinsACT ENSP00000518161.1:n.*56_*58delinsACT
ENST00000688158.2:n.1762_1764delinsACT
ENST00000688922.2:c.*857_*859delinsACT ENSP00000508742.2:n.*857_*859delinsACT
ENST00000700021.1:c.982_984delinsACT ENSP00000514757.1:p.Val328Thr
ENST00000700022.1:c.*366_*368delinsACT ENSP00000514758.1:n.*366_*368delinsACT
ENST00000700023.1:n.2185_2187delinsACT
ENST00000700024.1:n.2419_2421delinsACT
ENST00000706954.1:c.1027_1029delinsACT ENSP00000516674.1:p.Val343Thr
ENST00000706955.1:c.*1062_*1064delinsACT ENSP00000516675.1:n.*1062_*1064delinsACT
ENST00000686459.1:c.*613_*615delinsACT ENSP00000508909.1:n.*613_*615delinsACT
ENST00000688158.1:c.*1138_*1140delinsACT ENSP00000509254.1:n.*1138_*1140delinsACT
ENST00000688308.1:c.1027_1029delinsACT ENSP00000508752.1:p.Val343Thr
ENST00000688922.1:c.948_950delinsACT
ENST00000693560.1:c.1546_1548delinsACT ENSP00000509861.1:p.Val516Thr
ENST00000371953.8:c.1027_1029delinsACT MANE Select ENSP00000361021.3:p.Val343Thr
ENST00000371953.7:c.1027_1029delinsACT ENSP00000361021.3:p.Val343Thr
NM_000314.5:c.1027_1029delinsACT NP_000305.3:p.Val343Thr
NM_000314.6:c.1027_1029delinsACT NP_000305.3:p.Val343Thr
NM_001304717.2:c.1546_1548delinsACT NP_001291646.2:p.Val516Thr
NM_001304718.1:c.436_438delinsACT NP_001291647.1:p.Val146Thr
XM_006717926.2:c.982_984delinsACT XP_006717989.1:p.Val328Thr
XM_011539982.1:c.931_933delinsACT XP_011538284.1:p.Val311Thr
XR_945791.1:n.1597_1599delinsACT
NM_000314.7:c.1027_1029delinsACT NP_000305.3:p.Val343Thr
NM_001304717.5:c.1546_1548delinsACT NP_001291646.4:p.Val516Thr
NM_001304718.2:c.436_438delinsACT NP_001291647.1:p.Val146Thr
NM_000314.8:c.1027_1029delinsACT MANE Select NP_000305.3:p.Val343Thr