Canonical Allele Identifier: CA2579986058
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957867_87957869del , CM000672.2:g.87957867_87957869del GRCh38
NC_000010.10:g.89717624_89717626del , CM000672.1:g.89717624_89717626del GRCh37
NC_000010.9:g.89707604_89707606del NCBI36
NG_007466.2:g.99429_99431del , LRG_311:g.99429_99431del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.649_651del ENSP00000514759.2:p.Val217del
ENST00000710265.1:c.649_651del ENSP00000518161.1:p.Val217del
ENST00000472832.3:c.649_651del ENSP00000483066.2:p.Val217del
ENST00000688158.2:n.1384_1386del
ENST00000688922.2:c.*479_*481del ENSP00000508742.2:n.*479_*481del
ENST00000700021.1:c.604_606del ENSP00000514757.1:p.Val202del
ENST00000700022.1:c.507_509del ENSP00000514758.1:p.Trp169_Ser170delinsCys
ENST00000700023.1:n.1807_1809del
ENST00000700024.1:n.2041_2043del
ENST00000700025.1:n.1418_1420del
ENST00000700026.1:n.286_288del
ENST00000700029.1:c.483_485del
ENST00000706954.1:c.649_651del ENSP00000516674.1:p.Val217del
ENST00000706955.1:c.*684_*686del ENSP00000516675.1:n.*684_*686del
ENST00000686459.1:c.*235_*237del ENSP00000508909.1:n.*235_*237del
ENST00000688158.1:c.*760_*762del ENSP00000509254.1:n.*760_*762del
ENST00000688308.1:c.649_651del ENSP00000508752.1:p.Val217del
ENST00000688922.1:c.570_572del
ENST00000693560.1:c.1168_1170del ENSP00000509861.1:p.Val390del
ENST00000371953.8:c.649_651del MANE Select ENSP00000361021.3:p.Val217del
ENST00000371953.7:c.649_651del ENSP00000361021.3:p.Val217del
ENST00000472832.2:c.76_78del ENSP00000483066.1:p.Val26del
NM_000314.5:c.649_651del NP_000305.3:p.Val217del
NM_000314.6:c.649_651del NP_000305.3:p.Val217del
NM_001304717.2:c.1168_1170del NP_001291646.2:p.Val390del
NM_001304718.1:c.58_60del NP_001291647.1:p.Val20del
XM_006717926.2:c.604_606del XP_006717989.1:p.Val202del
XM_011539981.1:c.649_651del XP_011538283.1:p.Val217del
XM_011539982.1:c.553_555del XP_011538284.1:p.Val185del
XR_945791.1:n.1219_1221del
NM_000314.7:c.649_651del NP_000305.3:p.Val217del
NM_001304717.5:c.1168_1170del NP_001291646.4:p.Val390del
NM_001304718.2:c.58_60del NP_001291647.1:p.Val20del
NM_000314.8:c.649_651del MANE Select NP_000305.3:p.Val217del