Canonical Allele Identifier: CA2579926438
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965371_87965373del , CM000672.2:g.87965371_87965373del GRCh38
NC_000010.10:g.89725128_89725130del , CM000672.1:g.89725128_89725130del GRCh37
NC_000010.9:g.89715108_89715110del NCBI36
NG_007466.2:g.106933_106935del , LRG_311:g.106933_106935del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1204_1206del ENSP00000514759.2:p.Asp402del
ENST00000710265.1:c.*140_*142del ENSP00000518161.1:n.*140_*142del
ENST00000688158.2:n.1846_1848del
ENST00000688922.2:c.*941_*943del ENSP00000508742.2:n.*941_*943del
ENST00000700021.1:c.1066_1068del ENSP00000514757.1:p.Asp356del
ENST00000700022.1:c.*450_*452del ENSP00000514758.1:n.*450_*452del
ENST00000700023.1:n.2269_2271del
ENST00000700024.1:n.2503_2505del
ENST00000706954.1:c.1111_1113del ENSP00000516674.1:p.Asp371del
ENST00000706955.1:c.*1146_*1148del ENSP00000516675.1:n.*1146_*1148del
ENST00000686459.1:c.*697_*699del ENSP00000508909.1:n.*697_*699del
ENST00000688158.1:c.*1222_*1224del ENSP00000509254.1:n.*1222_*1224del
ENST00000688308.1:c.1111_1113del ENSP00000508752.1:p.Asp371del
ENST00000688922.1:c.1032_1034del
ENST00000693560.1:c.1630_1632del ENSP00000509861.1:p.Asp544del
ENST00000371953.8:c.1111_1113del MANE Select ENSP00000361021.3:p.Asp371del
ENST00000371953.7:c.1111_1113del ENSP00000361021.3:p.Asp371del
NM_000314.5:c.1111_1113del NP_000305.3:p.Asp371del
NM_000314.6:c.1111_1113del NP_000305.3:p.Asp371del
NM_001304717.2:c.1630_1632del NP_001291646.2:p.Asp544del
NM_001304718.1:c.520_522del NP_001291647.1:p.Asp174del
XM_006717926.2:c.1066_1068del XP_006717989.1:p.Asp356del
XM_011539982.1:c.1015_1017del XP_011538284.1:p.Asp339del
XR_945791.1:n.1681_1683del
NM_000314.7:c.1111_1113del NP_000305.3:p.Asp371del
NM_001304717.5:c.1630_1632del NP_001291646.4:p.Asp544del
NM_001304718.2:c.520_522del NP_001291647.1:p.Asp174del
NM_000314.8:c.1111_1113del MANE Select NP_000305.3:p.Asp371del