Canonical Allele Identifier: CA2579926455
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965413_87965415del , CM000672.2:g.87965413_87965415del GRCh38
NC_000010.10:g.89725170_89725172del , CM000672.1:g.89725170_89725172del GRCh37
NC_000010.9:g.89715150_89715152del NCBI36
NG_007466.2:g.106975_106977del , LRG_311:g.106975_106977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1246_1248del ENSP00000514759.2:p.Ser416del
ENST00000710265.1:c.*182_*184del ENSP00000518161.1:n.*182_*184del
ENST00000688158.2:n.1888_1890del
ENST00000688922.2:c.*983_*985del ENSP00000508742.2:n.*983_*985del
ENST00000700021.1:c.1108_1110del ENSP00000514757.1:p.Ser370del
ENST00000700022.1:c.*492_*494del ENSP00000514758.1:n.*492_*494del
ENST00000700023.1:n.2311_2313del
ENST00000700024.1:n.2545_2547del
ENST00000706954.1:c.1153_1155del ENSP00000516674.1:p.Ser385del
ENST00000706955.1:c.*1188_*1190del ENSP00000516675.1:n.*1188_*1190del
ENST00000686459.1:c.*739_*741del ENSP00000508909.1:n.*739_*741del
ENST00000688158.1:c.*1264_*1266del ENSP00000509254.1:n.*1264_*1266del
ENST00000688308.1:c.1153_1155del ENSP00000508752.1:p.Ser385del
ENST00000688922.1:c.1074_1076del
ENST00000693560.1:c.1672_1674del ENSP00000509861.1:p.Ser558del
ENST00000371953.8:c.1153_1155del MANE Select ENSP00000361021.3:p.Ser385del
ENST00000371953.7:c.1153_1155del ENSP00000361021.3:p.Ser385del
NM_000314.5:c.1153_1155del NP_000305.3:p.Ser385del
NM_000314.6:c.1153_1155del NP_000305.3:p.Ser385del
NM_001304717.2:c.1672_1674del NP_001291646.2:p.Ser558del
NM_001304718.1:c.562_564del NP_001291647.1:p.Ser188del
XM_006717926.2:c.1108_1110del XP_006717989.1:p.Ser370del
XM_011539982.1:c.1057_1059del XP_011538284.1:p.Ser353del
XR_945791.1:n.1723_1725del
NM_000314.7:c.1153_1155del NP_000305.3:p.Ser385del
NM_001304717.5:c.1672_1674del NP_001291646.4:p.Ser558del
NM_001304718.2:c.562_564del NP_001291647.1:p.Ser188del
NM_000314.8:c.1153_1155del MANE Select NP_000305.3:p.Ser385del