Canonical Allele Identifier: CA2579926918
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952139_87952141del , CM000672.2:g.87952139_87952141del GRCh38
NC_000010.10:g.89711896_89711898del , CM000672.1:g.89711896_89711898del GRCh37
NC_000010.9:g.89701876_89701878del NCBI36
NG_007466.2:g.93701_93703del , LRG_311:g.93701_93703del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.514_516del ENSP00000514759.2:p.Arg172del
ENST00000710265.1:c.514_516del ENSP00000518161.1:p.Arg172del
ENST00000472832.3:c.514_516del ENSP00000483066.2:p.Arg172del
ENST00000688158.2:n.1249_1251del
ENST00000688922.2:c.*344_*346del ENSP00000508742.2:n.*344_*346del
ENST00000700021.1:c.469_471del ENSP00000514757.1:p.Arg157del
ENST00000700022.1:c.493-5714_493-5712del ENSP00000514758.1:n.493-5714_493-5712del
ENST00000700023.1:n.1672_1674del
ENST00000700024.1:n.1906_1908del
ENST00000700025.1:n.1283_1285del
ENST00000700029.1:c.348_350del
ENST00000706954.1:c.514_516del ENSP00000516674.1:p.Arg172del
ENST00000706955.1:c.*549_*551del ENSP00000516675.1:n.*549_*551del
ENST00000686459.1:c.*100_*102del ENSP00000508909.1:n.*100_*102del
ENST00000688158.1:c.*625_*627del ENSP00000509254.1:n.*625_*627del
ENST00000688308.1:c.514_516del ENSP00000508752.1:p.Arg172del
ENST00000688922.1:c.435_437del
ENST00000693560.1:c.1033_1035del ENSP00000509861.1:p.Arg345del
ENST00000371953.8:c.514_516del MANE Select ENSP00000361021.3:p.Arg172del
ENST00000371953.7:c.514_516del ENSP00000361021.3:p.Arg172del
NM_000314.5:c.514_516del NP_000305.3:p.Arg172del
NM_000314.6:c.514_516del NP_000305.3:p.Arg172del
NM_001304717.2:c.1033_1035del NP_001291646.2:p.Arg345del
NM_001304718.1:c.-78_-76del NP_001291647.1:n.-78_-76del
XM_006717926.2:c.469_471del XP_006717989.1:p.Arg157del
XM_011539981.1:c.514_516del XP_011538283.1:p.Arg172del
XM_011539982.1:c.418_420del XP_011538284.1:p.Arg140del
XR_945789.1:n.1385_1387del
XR_945790.1:n.1502_1504del
XR_945791.1:n.1205-5714_1205-5712del
NM_000314.7:c.514_516del NP_000305.3:p.Arg172del
NM_001304717.5:c.1033_1035del NP_001291646.4:p.Arg345del
NM_001304718.2:c.-78_-76del NP_001291647.1:n.-78_-76del
NM_000314.8:c.514_516del MANE Select NP_000305.3:p.Arg172del