Canonical Allele Identifier: CA2579926418
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965383_87965384delinsTT , CM000672.2:g.87965383_87965384delinsTT GRCh38
NC_000010.10:g.89725140_89725141delinsTT , CM000672.1:g.89725140_89725141delinsTT GRCh37
NC_000010.9:g.89715120_89715121delinsTT NCBI36
NG_007466.2:g.106945_106946delinsTT , LRG_311:g.106945_106946delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1216_1217delinsTT ENSP00000514759.2:p.Asp406Phe
ENST00000710265.1:c.*152_*153delinsTT ENSP00000518161.1:n.*152_*153delinsTT
ENST00000688158.2:n.1858_1859delinsTT
ENST00000688922.2:c.*953_*954delinsTT ENSP00000508742.2:n.*953_*954delinsTT
ENST00000700021.1:c.1078_1079delinsTT ENSP00000514757.1:p.Asp360Phe
ENST00000700022.1:c.*462_*463delinsTT ENSP00000514758.1:n.*462_*463delinsTT
ENST00000700023.1:n.2281_2282delinsTT
ENST00000700024.1:n.2515_2516delinsTT
ENST00000706954.1:c.1123_1124delinsTT ENSP00000516674.1:p.Asp375Phe
ENST00000706955.1:c.*1158_*1159delinsTT ENSP00000516675.1:n.*1158_*1159delinsTT
ENST00000686459.1:c.*709_*710delinsTT ENSP00000508909.1:n.*709_*710delinsTT
ENST00000688158.1:c.*1234_*1235delinsTT ENSP00000509254.1:n.*1234_*1235delinsTT
ENST00000688308.1:c.1123_1124delinsTT ENSP00000508752.1:p.Asp375Phe
ENST00000688922.1:c.1044_1045delinsTT
ENST00000693560.1:c.1642_1643delinsTT ENSP00000509861.1:p.Asp548Phe
ENST00000371953.8:c.1123_1124delinsTT MANE Select ENSP00000361021.3:p.Asp375Phe
ENST00000371953.7:c.1123_1124delinsTT ENSP00000361021.3:p.Asp375Phe
NM_000314.5:c.1123_1124delinsTT NP_000305.3:p.Asp375Phe
NM_000314.6:c.1123_1124delinsTT NP_000305.3:p.Asp375Phe
NM_001304717.2:c.1642_1643delinsTT NP_001291646.2:p.Asp548Phe
NM_001304718.1:c.532_533delinsTT NP_001291647.1:p.Asp178Phe
XM_006717926.2:c.1078_1079delinsTT XP_006717989.1:p.Asp360Phe
XM_011539982.1:c.1027_1028delinsTT XP_011538284.1:p.Asp343Phe
XR_945791.1:n.1693_1694delinsTT
NM_000314.7:c.1123_1124delinsTT NP_000305.3:p.Asp375Phe
NM_001304717.5:c.1642_1643delinsTT NP_001291646.4:p.Asp548Phe
NM_001304718.2:c.532_533delinsTT NP_001291647.1:p.Asp178Phe
NM_000314.8:c.1123_1124delinsTT MANE Select NP_000305.3:p.Asp375Phe