Canonical Allele Identifier: CA2579926883
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957886_87957888del , CM000672.2:g.87957886_87957888del GRCh38
NC_000010.10:g.89717643_89717645del , CM000672.1:g.89717643_89717645del GRCh37
NC_000010.9:g.89707623_89707625del NCBI36
NG_007466.2:g.99448_99450del , LRG_311:g.99448_99450del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.668_670del ENSP00000514759.2:p.Lys223del
ENST00000710265.1:c.668_670del ENSP00000518161.1:p.Lys223del
ENST00000472832.3:c.668_670del ENSP00000483066.2:p.Lys223del
ENST00000688158.2:n.1403_1405del
ENST00000688922.2:c.*498_*500del ENSP00000508742.2:n.*498_*500del
ENST00000700021.1:c.623_625del ENSP00000514757.1:p.Lys208del
ENST00000700022.1:c.*7_*9del ENSP00000514758.1:n.*7_*9del
ENST00000700023.1:n.1826_1828del
ENST00000700024.1:n.2060_2062del
ENST00000700025.1:n.1437_1439del
ENST00000700026.1:n.305_307del
ENST00000700029.1:c.502_504del
ENST00000706954.1:c.668_670del ENSP00000516674.1:p.Lys223del
ENST00000706955.1:c.*703_*705del ENSP00000516675.1:n.*703_*705del
ENST00000686459.1:c.*254_*256del ENSP00000508909.1:n.*254_*256del
ENST00000688158.1:c.*779_*781del ENSP00000509254.1:n.*779_*781del
ENST00000688308.1:c.668_670del ENSP00000508752.1:p.Lys223del
ENST00000688922.1:c.589_591del
ENST00000693560.1:c.1187_1189del ENSP00000509861.1:p.Lys396del
ENST00000371953.8:c.668_670del MANE Select ENSP00000361021.3:p.Lys223del
ENST00000371953.7:c.668_670del ENSP00000361021.3:p.Lys223del
ENST00000472832.2:c.95_97del ENSP00000483066.1:p.Lys32del
NM_000314.5:c.668_670del NP_000305.3:p.Lys223del
NM_000314.6:c.668_670del NP_000305.3:p.Lys223del
NM_001304717.2:c.1187_1189del NP_001291646.2:p.Lys396del
NM_001304718.1:c.77_79del NP_001291647.1:p.Lys26del
XM_006717926.2:c.623_625del XP_006717989.1:p.Lys208del
XM_011539981.1:c.668_670del XP_011538283.1:p.Lys223del
XM_011539982.1:c.572_574del XP_011538284.1:p.Lys191del
XR_945791.1:n.1238_1240del
NM_000314.7:c.668_670del NP_000305.3:p.Lys223del
NM_001304717.5:c.1187_1189del NP_001291646.4:p.Lys396del
NM_001304718.2:c.77_79del NP_001291647.1:p.Lys26del
NM_000314.8:c.668_670del MANE Select NP_000305.3:p.Lys223del