Canonical Allele Identifier: CA2579926375
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965464_87965466del , CM000672.2:g.87965464_87965466del GRCh38
NC_000010.10:g.89725221_89725223del , CM000672.1:g.89725221_89725223del GRCh37
NC_000010.9:g.89715201_89715203del NCBI36
NG_007466.2:g.107026_107028del , LRG_311:g.107026_107028del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1297_1299del ENSP00000514759.2:p.Lys433del
ENST00000710265.1:c.*233_*235del ENSP00000518161.1:n.*233_*235del
ENST00000688158.2:n.1939_1941del
ENST00000688922.2:c.*1034_*1036del ENSP00000508742.2:n.*1034_*1036del
ENST00000700021.1:c.1159_1161del ENSP00000514757.1:p.Lys387del
ENST00000700022.1:c.*543_*545del ENSP00000514758.1:n.*543_*545del
ENST00000700023.1:n.2362_2364del
ENST00000700024.1:n.2596_2598del
ENST00000706954.1:c.1204_1206del ENSP00000516674.1:p.Lys402del
ENST00000706955.1:c.*1239_*1241del ENSP00000516675.1:n.*1239_*1241del
ENST00000686459.1:c.*790_*792del ENSP00000508909.1:n.*790_*792del
ENST00000688158.1:c.*1315_*1317del ENSP00000509254.1:n.*1315_*1317del
ENST00000688308.1:c.1204_1206del ENSP00000508752.1:p.Lys402del
ENST00000688922.1:c.1125_1127del
ENST00000693560.1:c.1723_1725del ENSP00000509861.1:p.Lys575del
ENST00000371953.8:c.1204_1206del MANE Select ENSP00000361021.3:p.Lys402del
ENST00000371953.7:c.1204_1206del ENSP00000361021.3:p.Lys402del
NM_000314.5:c.1204_1206del NP_000305.3:p.Lys402del
NM_000314.6:c.1204_1206del NP_000305.3:p.Lys402del
NM_001304717.2:c.1723_1725del NP_001291646.2:p.Lys575del
NM_001304718.1:c.613_615del NP_001291647.1:p.Lys205del
XM_006717926.2:c.1159_1161del XP_006717989.1:p.Lys387del
XM_011539982.1:c.1108_1110del XP_011538284.1:p.Lys370del
XR_945791.1:n.1774_1776del
NM_000314.7:c.1204_1206del NP_000305.3:p.Lys402del
NM_001304717.5:c.1723_1725del NP_001291646.4:p.Lys575del
NM_001304718.2:c.613_615del NP_001291647.1:p.Lys205del
NM_000314.8:c.1204_1206del MANE Select NP_000305.3:p.Lys402del