Canonical Allele Identifier: CA1139661609
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960915dup , CM000672.2:g.87960915dup GRCh38
NC_000010.10:g.89720672dup , CM000672.1:g.89720672dup GRCh37
NC_000010.9:g.89710652dup NCBI36
NG_007466.2:g.102477dup , LRG_311:g.102477dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.916dup ENSP00000514759.2:p.Val306GlyfsTer23
ENST00000710265.1:c.823dup ENSP00000518161.1:p.Val275GlyfsTer23
ENST00000472832.3:c.823dup ENSP00000483066.2:p.Val275GlyfsTer23
ENST00000688158.2:n.1558dup
ENST00000688922.2:c.*653dup ENSP00000508742.2:n.*653dup
ENST00000700021.1:c.778dup ENSP00000514757.1:p.Val260GlyfsTer23
ENST00000700022.1:c.*162dup ENSP00000514758.1:n.*162dup
ENST00000700023.1:n.1981dup
ENST00000700024.1:n.2215dup
ENST00000700025.1:n.1592dup
ENST00000700026.1:n.460dup
ENST00000700029.1:c.750dup
ENST00000706954.1:c.823dup ENSP00000516674.1:p.Val275GlyfsTer23
ENST00000706955.1:c.*858dup ENSP00000516675.1:n.*858dup
ENST00000686459.1:c.*409dup ENSP00000508909.1:n.*409dup
ENST00000688158.1:c.*934dup ENSP00000509254.1:n.*934dup
ENST00000688308.1:c.823dup ENSP00000508752.1:p.Val275GlyfsTer23
ENST00000688922.1:c.744dup
ENST00000693560.1:c.1342dup ENSP00000509861.1:p.Val448GlyfsTer23
ENST00000371953.8:c.823dup MANE Select ENSP00000361021.3:p.Val275GlyfsTer23
ENST00000371953.7:c.823dup ENSP00000361021.3:p.Val275GlyfsTer23
ENST00000472832.2:c.250dup ENSP00000483066.1:p.Val84GlyfsTer23
NM_000314.5:c.823dup NP_000305.3:p.Val275GlyfsTer23
NM_000314.6:c.823dup NP_000305.3:p.Val275GlyfsTer23
NM_001304717.2:c.1342dup NP_001291646.2:p.Val448GlyfsTer23
NM_001304718.1:c.232dup NP_001291647.1:p.Val78GlyfsTer23
XM_006717926.2:c.778dup XP_006717989.1:p.Val260GlyfsTer23
XM_011539981.1:c.823dup XP_011538283.1:p.Val275GlyfsTer23
XM_011539982.1:c.727dup XP_011538284.1:p.Val243GlyfsTer23
XR_945791.1:n.1393dup
NM_000314.7:c.823dup NP_000305.3:p.Val275GlyfsTer23
NM_001304717.5:c.1342dup NP_001291646.4:p.Val448GlyfsTer23
NM_001304718.2:c.232dup NP_001291647.1:p.Val78GlyfsTer23
NM_000314.8:c.823dup MANE Select NP_000305.3:p.Val275GlyfsTer23