Canonical Allele Identifier: CA2579926414
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965392_87965394del , CM000672.2:g.87965392_87965394del GRCh38
NC_000010.10:g.89725149_89725151del , CM000672.1:g.89725149_89725151del GRCh37
NC_000010.9:g.89715129_89715131del NCBI36
NG_007466.2:g.106954_106956del , LRG_311:g.106954_106956del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1225_1227del ENSP00000514759.2:p.Arg409del
ENST00000710265.1:c.*161_*163del ENSP00000518161.1:n.*161_*163del
ENST00000688158.2:n.1867_1869del
ENST00000688922.2:c.*962_*964del ENSP00000508742.2:n.*962_*964del
ENST00000700021.1:c.1087_1089del ENSP00000514757.1:p.Arg363del
ENST00000700022.1:c.*471_*473del ENSP00000514758.1:n.*471_*473del
ENST00000700023.1:n.2290_2292del
ENST00000700024.1:n.2524_2526del
ENST00000706954.1:c.1132_1134del ENSP00000516674.1:p.Arg378del
ENST00000706955.1:c.*1167_*1169del ENSP00000516675.1:n.*1167_*1169del
ENST00000686459.1:c.*718_*720del ENSP00000508909.1:n.*718_*720del
ENST00000688158.1:c.*1243_*1245del ENSP00000509254.1:n.*1243_*1245del
ENST00000688308.1:c.1132_1134del ENSP00000508752.1:p.Arg378del
ENST00000688922.1:c.1053_1055del
ENST00000693560.1:c.1651_1653del ENSP00000509861.1:p.Arg551del
ENST00000371953.8:c.1132_1134del MANE Select ENSP00000361021.3:p.Arg378del
ENST00000371953.7:c.1132_1134del ENSP00000361021.3:p.Arg378del
NM_000314.5:c.1132_1134del NP_000305.3:p.Arg378del
NM_000314.6:c.1132_1134del NP_000305.3:p.Arg378del
NM_001304717.2:c.1651_1653del NP_001291646.2:p.Arg551del
NM_001304718.1:c.541_543del NP_001291647.1:p.Arg181del
XM_006717926.2:c.1087_1089del XP_006717989.1:p.Arg363del
XM_011539982.1:c.1036_1038del XP_011538284.1:p.Arg346del
XR_945791.1:n.1702_1704del
NM_000314.7:c.1132_1134del NP_000305.3:p.Arg378del
NM_001304717.5:c.1651_1653del NP_001291646.4:p.Arg551del
NM_001304718.2:c.541_543del NP_001291647.1:p.Arg181del
NM_000314.8:c.1132_1134del MANE Select NP_000305.3:p.Arg378del