Canonical Allele Identifier: CA2579926369
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965467_87965469delinsTGT , CM000672.2:g.87965467_87965469delinsTGT GRCh38
NC_000010.10:g.89725224_89725226delinsTGT , CM000672.1:g.89725224_89725226delinsTGT GRCh37
NC_000010.9:g.89715204_89715206delinsTGT NCBI36
NG_007466.2:g.107029_107031delinsTGT , LRG_311:g.107029_107031delinsTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1300_1302delinsTGT ENSP00000514759.2:p.Val434Cys
ENST00000710265.1:c.*236_*238delinsTGT ENSP00000518161.1:n.*236_*238delinsTGT
ENST00000688158.2:n.1942_1944delinsTGT
ENST00000688922.2:c.*1037_*1039delinsTGT ENSP00000508742.2:n.*1037_*1039delinsTGT
ENST00000700021.1:c.1162_1164delinsTGT ENSP00000514757.1:p.Val388Cys
ENST00000700022.1:c.*546_*548delinsTGT ENSP00000514758.1:n.*546_*548delinsTGT
ENST00000700023.1:n.2365_2367delinsTGT
ENST00000700024.1:n.2599_2601delinsTGT
ENST00000706954.1:c.1207_1209delinsTGT ENSP00000516674.1:p.Val403Cys
ENST00000706955.1:c.*1242_*1244delinsTGT ENSP00000516675.1:n.*1242_*1244delinsTGT
ENST00000686459.1:c.*793_*795delinsTGT ENSP00000508909.1:n.*793_*795delinsTGT
ENST00000688158.1:c.*1318_*1320delinsTGT ENSP00000509254.1:n.*1318_*1320delinsTGT
ENST00000688308.1:c.1207_1209delinsTGT ENSP00000508752.1:p.Val403Cys
ENST00000688922.1:c.1128_1130delinsTGT
ENST00000693560.1:c.1726_1728delinsTGT ENSP00000509861.1:p.Val576Cys
ENST00000371953.8:c.1207_1209delinsTGT MANE Select ENSP00000361021.3:p.Val403Cys
ENST00000371953.7:c.1207_1209delinsTGT ENSP00000361021.3:p.Val403Cys
NM_000314.5:c.1207_1209delinsTGT NP_000305.3:p.Val403Cys
NM_000314.6:c.1207_1209delinsTGT NP_000305.3:p.Val403Cys
NM_001304717.2:c.1726_1728delinsTGT NP_001291646.2:p.Val576Cys
NM_001304718.1:c.616_618delinsTGT NP_001291647.1:p.Val206Cys
XM_006717926.2:c.1162_1164delinsTGT XP_006717989.1:p.Val388Cys
XM_011539982.1:c.1111_1113delinsTGT XP_011538284.1:p.Val371Cys
XR_945791.1:n.1777_1779delinsTGT
NM_000314.7:c.1207_1209delinsTGT NP_000305.3:p.Val403Cys
NM_001304717.5:c.1726_1728delinsTGT NP_001291646.4:p.Val576Cys
NM_001304718.2:c.616_618delinsTGT NP_001291647.1:p.Val206Cys
NM_000314.8:c.1207_1209delinsTGT MANE Select NP_000305.3:p.Val403Cys