Canonical Allele Identifier: CA2579926567
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965365_87965367del , CM000672.2:g.87965365_87965367del GRCh38
NC_000010.10:g.89725122_89725124del , CM000672.1:g.89725122_89725124del GRCh37
NC_000010.9:g.89715102_89715104del NCBI36
NG_007466.2:g.106927_106929del , LRG_311:g.106927_106929del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1198_1200del ENSP00000514759.2:p.Val400del
ENST00000710265.1:c.*134_*136del ENSP00000518161.1:n.*134_*136del
ENST00000688158.2:n.1840_1842del
ENST00000688922.2:c.*935_*937del ENSP00000508742.2:n.*935_*937del
ENST00000700021.1:c.1060_1062del ENSP00000514757.1:p.Val354del
ENST00000700022.1:c.*444_*446del ENSP00000514758.1:n.*444_*446del
ENST00000700023.1:n.2263_2265del
ENST00000700024.1:n.2497_2499del
ENST00000706954.1:c.1105_1107del ENSP00000516674.1:p.Val369del
ENST00000706955.1:c.*1140_*1142del ENSP00000516675.1:n.*1140_*1142del
ENST00000686459.1:c.*691_*693del ENSP00000508909.1:n.*691_*693del
ENST00000688158.1:c.*1216_*1218del ENSP00000509254.1:n.*1216_*1218del
ENST00000688308.1:c.1105_1107del ENSP00000508752.1:p.Val369del
ENST00000688922.1:c.1026_1028del
ENST00000693560.1:c.1624_1626del ENSP00000509861.1:p.Val542del
ENST00000371953.8:c.1105_1107del MANE Select ENSP00000361021.3:p.Val369del
ENST00000371953.7:c.1105_1107del ENSP00000361021.3:p.Val369del
NM_000314.5:c.1105_1107del NP_000305.3:p.Val369del
NM_000314.6:c.1105_1107del NP_000305.3:p.Val369del
NM_001304717.2:c.1624_1626del NP_001291646.2:p.Val542del
NM_001304718.1:c.514_516del NP_001291647.1:p.Val172del
XM_006717926.2:c.1060_1062del XP_006717989.1:p.Val354del
XM_011539982.1:c.1009_1011del XP_011538284.1:p.Val337del
XR_945791.1:n.1675_1677del
NM_000314.7:c.1105_1107del NP_000305.3:p.Val369del
NM_001304717.5:c.1624_1626del NP_001291646.4:p.Val542del
NM_001304718.2:c.514_516del NP_001291647.1:p.Val172del
NM_000314.8:c.1105_1107del MANE Select NP_000305.3:p.Val369del