Canonical Allele Identifier: CA2695203406
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958008_87958009dup , CM000672.2:g.87958008_87958009dup GRCh38
NC_000010.10:g.89717765_89717766dup , CM000672.1:g.89717765_89717766dup GRCh37
NC_000010.9:g.89707745_89707746dup NCBI36
NG_007466.2:g.99570_99571dup , LRG_311:g.99570_99571dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.790_791dup ENSP00000514759.2:p.Met264IlefsTer3
ENST00000710265.1:c.790_791dup ENSP00000518161.1:p.Met264IlefsTer3
ENST00000472832.3:c.790_791dup ENSP00000483066.2:p.Met264IlefsTer3
ENST00000688158.2:n.1525_1526dup
ENST00000688922.2:c.*620_*621dup ENSP00000508742.2:n.*620_*621dup
ENST00000700021.1:c.745_746dup ENSP00000514757.1:p.Met249IlefsTer3
ENST00000700022.1:c.*129_*130dup ENSP00000514758.1:n.*129_*130dup
ENST00000700023.1:n.1948_1949dup
ENST00000700024.1:n.2182_2183dup
ENST00000700025.1:n.1559_1560dup
ENST00000700026.1:n.427_428dup
ENST00000700029.1:c.624_625dup
ENST00000706954.1:c.790_791dup ENSP00000516674.1:p.Met264IlefsTer3
ENST00000706955.1:c.*825_*826dup ENSP00000516675.1:n.*825_*826dup
ENST00000686459.1:c.*376_*377dup ENSP00000508909.1:n.*376_*377dup
ENST00000688158.1:c.*901_*902dup ENSP00000509254.1:n.*901_*902dup
ENST00000688308.1:c.790_791dup ENSP00000508752.1:p.Met264IlefsTer3
ENST00000688922.1:c.711_712dup
ENST00000693560.1:c.1309_1310dup ENSP00000509861.1:p.Met437IlefsTer3
ENST00000371953.8:c.790_791dup MANE Select ENSP00000361021.3:p.Met264IlefsTer3
ENST00000371953.7:c.790_791dup ENSP00000361021.3:p.Met264IlefsTer3
ENST00000472832.2:c.217_218dup ENSP00000483066.1:p.Met73IlefsTer3
NM_000314.5:c.790_791dup NP_000305.3:p.Met264IlefsTer3
NM_000314.6:c.790_791dup NP_000305.3:p.Met264IlefsTer3
NM_001304717.2:c.1309_1310dup NP_001291646.2:p.Met437IlefsTer3
NM_001304718.1:c.199_200dup NP_001291647.1:p.Met67IlefsTer3
XM_006717926.2:c.745_746dup XP_006717989.1:p.Met249IlefsTer3
XM_011539981.1:c.790_791dup XP_011538283.1:p.Met264IlefsTer3
XM_011539982.1:c.694_695dup XP_011538284.1:p.Met232IlefsTer3
XR_945791.1:n.1360_1361dup
NM_000314.7:c.790_791dup NP_000305.3:p.Met264IlefsTer3
NM_001304717.5:c.1309_1310dup NP_001291646.4:p.Met437IlefsTer3
NM_001304718.2:c.199_200dup NP_001291647.1:p.Met67IlefsTer3
NM_000314.8:c.790_791dup MANE Select NP_000305.3:p.Met264IlefsTer3