Canonical Allele Identifier: CA1926173967
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1860737554

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965391_87965392dup , CM000672.2:g.87965391_87965392dup GRCh38
NC_000010.10:g.89725148_89725149dup , CM000672.1:g.89725148_89725149dup GRCh37
NC_000010.9:g.89715128_89715129dup NCBI36
NG_007466.2:g.106953_106954dup , LRG_311:g.106953_106954dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1224_1225dup ENSP00000514759.2:p.Arg409IlefsTer?
ENST00000710265.1:c.*160_*161dup ENSP00000518161.1:n.*160_*161dup
ENST00000688158.2:n.1866_1867dup
ENST00000688922.2:c.*961_*962dup ENSP00000508742.2:n.*961_*962dup
ENST00000700021.1:c.1086_1087dup ENSP00000514757.1:p.Arg363IlefsTer?
ENST00000700022.1:c.*470_*471dup ENSP00000514758.1:n.*470_*471dup
ENST00000700023.1:n.2289_2290dup
ENST00000700024.1:n.2523_2524dup
ENST00000706954.1:c.1131_1132dup ENSP00000516674.1:p.Arg378IlefsTer?
ENST00000706955.1:c.*1166_*1167dup ENSP00000516675.1:n.*1166_*1167dup
ENST00000686459.1:c.*717_*718dup ENSP00000508909.1:n.*717_*718dup
ENST00000688158.1:c.*1242_*1243dup ENSP00000509254.1:n.*1242_*1243dup
ENST00000688308.1:c.1131_1132dup ENSP00000508752.1:p.Arg378IlefsTer?
ENST00000688922.1:c.1052_1053dup
ENST00000693560.1:c.1650_1651dup ENSP00000509861.1:p.Arg551IlefsTer?
ENST00000371953.8:c.1131_1132dup MANE Select ENSP00000361021.3:p.Arg378IlefsTer?
ENST00000371953.7:c.1131_1132dup ENSP00000361021.3:p.Arg378IlefsTer?
NM_000314.5:c.1131_1132dup NP_000305.3:p.Arg378IlefsTer?
NM_000314.6:c.1131_1132dup NP_000305.3:p.Arg378IlefsTer?
NM_001304717.2:c.1650_1651dup NP_001291646.2:p.Arg551IlefsTer?
NM_001304718.1:c.540_541dup NP_001291647.1:p.Arg181IlefsTer?
XM_006717926.2:c.1086_1087dup XP_006717989.1:p.Arg363IlefsTer?
XM_011539982.1:c.1035_1036dup XP_011538284.1:p.Arg346IlefsTer?
XR_945791.1:n.1701_1702dup
NM_000314.7:c.1131_1132dup NP_000305.3:p.Arg378IlefsTer?
NM_001304717.5:c.1650_1651dup NP_001291646.4:p.Arg551IlefsTer?
NM_001304718.2:c.540_541dup NP_001291647.1:p.Arg181IlefsTer?
NM_000314.8:c.1131_1132dup MANE Select NP_000305.3:p.Arg378IlefsTer?