Canonical Allele Identifier: CA2579926398
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965443_87965445del , CM000672.2:g.87965443_87965445del GRCh38
NC_000010.10:g.89725200_89725202del , CM000672.1:g.89725200_89725202del GRCh37
NC_000010.9:g.89715180_89715182del NCBI36
NG_007466.2:g.107005_107007del , LRG_311:g.107005_107007del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1276_1278del ENSP00000514759.2:p.Asp426del
ENST00000710265.1:c.*212_*214del ENSP00000518161.1:n.*212_*214del
ENST00000688158.2:n.1918_1920del
ENST00000688922.2:c.*1013_*1015del ENSP00000508742.2:n.*1013_*1015del
ENST00000700021.1:c.1138_1140del ENSP00000514757.1:p.Asp380del
ENST00000700022.1:c.*522_*524del ENSP00000514758.1:n.*522_*524del
ENST00000700023.1:n.2341_2343del
ENST00000700024.1:n.2575_2577del
ENST00000706954.1:c.1183_1185del ENSP00000516674.1:p.Asp395del
ENST00000706955.1:c.*1218_*1220del ENSP00000516675.1:n.*1218_*1220del
ENST00000686459.1:c.*769_*771del ENSP00000508909.1:n.*769_*771del
ENST00000688158.1:c.*1294_*1296del ENSP00000509254.1:n.*1294_*1296del
ENST00000688308.1:c.1183_1185del ENSP00000508752.1:p.Asp395del
ENST00000688922.1:c.1104_1106del
ENST00000693560.1:c.1702_1704del ENSP00000509861.1:p.Asp568del
ENST00000371953.8:c.1183_1185del MANE Select ENSP00000361021.3:p.Asp395del
ENST00000371953.7:c.1183_1185del ENSP00000361021.3:p.Asp395del
NM_000314.5:c.1183_1185del NP_000305.3:p.Asp395del
NM_000314.6:c.1183_1185del NP_000305.3:p.Asp395del
NM_001304717.2:c.1702_1704del NP_001291646.2:p.Asp568del
NM_001304718.1:c.592_594del NP_001291647.1:p.Asp198del
XM_006717926.2:c.1138_1140del XP_006717989.1:p.Asp380del
XM_011539982.1:c.1087_1089del XP_011538284.1:p.Asp363del
XR_945791.1:n.1753_1755del
NM_000314.7:c.1183_1185del NP_000305.3:p.Asp395del
NM_001304717.5:c.1702_1704del NP_001291646.4:p.Asp568del
NM_001304718.2:c.592_594del NP_001291647.1:p.Asp198del
NM_000314.8:c.1183_1185del MANE Select NP_000305.3:p.Asp395del