Canonical Allele Identifier: CA2579926649
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961089_87961091delinsTGT , CM000672.2:g.87961089_87961091delinsTGT GRCh38
NC_000010.10:g.89720846_89720848delinsTGT , CM000672.1:g.89720846_89720848delinsTGT GRCh37
NC_000010.9:g.89710826_89710828delinsTGT NCBI36
NG_007466.2:g.102651_102653delinsTGT , LRG_311:g.102651_102653delinsTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1090_1092delinsTGT ENSP00000514759.2:p.Ala364Cys
ENST00000710265.1:c.997_999delinsTGT ENSP00000518161.1:p.Ala333Cys
ENST00000472832.3:c.997_999delinsTGT ENSP00000483066.2:p.Ala333Cys
ENST00000688158.2:n.1732_1734delinsTGT
ENST00000688922.2:c.*827_*829delinsTGT ENSP00000508742.2:n.*827_*829delinsTGT
ENST00000700021.1:c.952_954delinsTGT ENSP00000514757.1:p.Ala318Cys
ENST00000700022.1:c.*336_*338delinsTGT ENSP00000514758.1:n.*336_*338delinsTGT
ENST00000700023.1:n.2155_2157delinsTGT
ENST00000700024.1:n.2389_2391delinsTGT
ENST00000700025.1:n.1766_1768delinsTGT
ENST00000700026.1:n.634_636delinsTGT
ENST00000706954.1:c.997_999delinsTGT ENSP00000516674.1:p.Ala333Cys
ENST00000706955.1:c.*1032_*1034delinsTGT ENSP00000516675.1:n.*1032_*1034delinsTGT
ENST00000686459.1:c.*583_*585delinsTGT ENSP00000508909.1:n.*583_*585delinsTGT
ENST00000688158.1:c.*1108_*1110delinsTGT ENSP00000509254.1:n.*1108_*1110delinsTGT
ENST00000688308.1:c.997_999delinsTGT ENSP00000508752.1:p.Ala333Cys
ENST00000688922.1:c.918_920delinsTGT
ENST00000693560.1:c.1516_1518delinsTGT ENSP00000509861.1:p.Ala506Cys
ENST00000371953.8:c.997_999delinsTGT MANE Select ENSP00000361021.3:p.Ala333Cys
ENST00000371953.7:c.997_999delinsTGT ENSP00000361021.3:p.Ala333Cys
ENST00000472832.2:c.424_426delinsTGT ENSP00000483066.1:p.Ala142Cys
NM_000314.5:c.997_999delinsTGT NP_000305.3:p.Ala333Cys
NM_000314.6:c.997_999delinsTGT NP_000305.3:p.Ala333Cys
NM_001304717.2:c.1516_1518delinsTGT NP_001291646.2:p.Ala506Cys
NM_001304718.1:c.406_408delinsTGT NP_001291647.1:p.Ala136Cys
XM_006717926.2:c.952_954delinsTGT XP_006717989.1:p.Ala318Cys
XM_011539981.1:c.997_999delinsTGT XP_011538283.1:p.Ala333Cys
XM_011539982.1:c.901_903delinsTGT XP_011538284.1:p.Ala301Cys
XR_945791.1:n.1567_1569delinsTGT
NM_000314.7:c.997_999delinsTGT NP_000305.3:p.Ala333Cys
NM_001304717.5:c.1516_1518delinsTGT NP_001291646.4:p.Ala506Cys
NM_001304718.2:c.406_408delinsTGT NP_001291647.1:p.Ala136Cys
NM_000314.8:c.997_999delinsTGT MANE Select NP_000305.3:p.Ala333Cys