Canonical Allele Identifier: CA891841472
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965287_87965289delinsCAT , CM000672.2:g.87965287_87965289delinsCAT GRCh38
NC_000010.10:g.89725044_89725046delinsCAT , CM000672.1:g.89725044_89725046delinsCAT GRCh37
NC_000010.9:g.89715024_89715026delinsCAT NCBI36
NG_007466.2:g.106849_106851delinsCAT , LRG_311:g.106849_106851delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1120_1122delinsCAT ENSP00000514759.2:p.Val374His
ENST00000710265.1:c.*56_*58delinsCAT ENSP00000518161.1:n.*56_*58delinsCAT
ENST00000688158.2:n.1762_1764delinsCAT
ENST00000688922.2:c.*857_*859delinsCAT ENSP00000508742.2:n.*857_*859delinsCAT
ENST00000700021.1:c.982_984delinsCAT ENSP00000514757.1:p.Val328His
ENST00000700022.1:c.*366_*368delinsCAT ENSP00000514758.1:n.*366_*368delinsCAT
ENST00000700023.1:n.2185_2187delinsCAT
ENST00000700024.1:n.2419_2421delinsCAT
ENST00000706954.1:c.1027_1029delinsCAT ENSP00000516674.1:p.Val343His
ENST00000706955.1:c.*1062_*1064delinsCAT ENSP00000516675.1:n.*1062_*1064delinsCAT
ENST00000686459.1:c.*613_*615delinsCAT ENSP00000508909.1:n.*613_*615delinsCAT
ENST00000688158.1:c.*1138_*1140delinsCAT ENSP00000509254.1:n.*1138_*1140delinsCAT
ENST00000688308.1:c.1027_1029delinsCAT ENSP00000508752.1:p.Val343His
ENST00000688922.1:c.948_950delinsCAT
ENST00000693560.1:c.1546_1548delinsCAT ENSP00000509861.1:p.Val516His
ENST00000371953.8:c.1027_1029delinsCAT MANE Select ENSP00000361021.3:p.Val343His
ENST00000371953.7:c.1027_1029delinsCAT ENSP00000361021.3:p.Val343His
NM_000314.5:c.1027_1029delinsCAT NP_000305.3:p.Val343His
NM_000314.6:c.1027_1029delinsCAT NP_000305.3:p.Val343His
NM_001304717.2:c.1546_1548delinsCAT NP_001291646.2:p.Val516His
NM_001304718.1:c.436_438delinsCAT NP_001291647.1:p.Val146His
XM_006717926.2:c.982_984delinsCAT XP_006717989.1:p.Val328His
XM_011539982.1:c.931_933delinsCAT XP_011538284.1:p.Val311His
XR_945791.1:n.1597_1599delinsCAT
NM_000314.7:c.1027_1029delinsCAT NP_000305.3:p.Val343His
NM_001304717.5:c.1546_1548delinsCAT NP_001291646.4:p.Val516His
NM_001304718.2:c.436_438delinsCAT NP_001291647.1:p.Val146His
NM_000314.8:c.1027_1029delinsCAT MANE Select NP_000305.3:p.Val343His