Canonical Allele Identifier: CA645554090
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960970dup , CM000672.2:g.87960970dup GRCh38
NC_000010.10:g.89720727dup , CM000672.1:g.89720727dup GRCh37
NC_000010.9:g.89710707dup NCBI36
NG_007466.2:g.102532dup , LRG_311:g.102532dup

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.971dup ENSP00000514759.2:p.Ser325LysfsTer4
ENST00000710265.1:c.878dup ENSP00000518161.1:p.Ser294LysfsTer4
ENST00000472832.3:c.878dup ENSP00000483066.2:p.Ser294LysfsTer4
ENST00000688158.2:n.1613dup
ENST00000688922.2:c.*708dup ENSP00000508742.2:n.*708dup
ENST00000700021.1:c.833dup ENSP00000514757.1:p.Ser279LysfsTer4
ENST00000700022.1:c.*217dup ENSP00000514758.1:n.*217dup
ENST00000700023.1:n.2036dup
ENST00000700024.1:n.2270dup
ENST00000700025.1:n.1647dup
ENST00000700026.1:n.515dup
ENST00000700029.1:c.805dup
ENST00000706954.1:c.878dup ENSP00000516674.1:p.Ser294LysfsTer4
ENST00000706955.1:c.*913dup ENSP00000516675.1:n.*913dup
ENST00000686459.1:c.*464dup ENSP00000508909.1:n.*464dup
ENST00000688158.1:c.*989dup ENSP00000509254.1:n.*989dup
ENST00000688308.1:c.878dup ENSP00000508752.1:p.Ser294LysfsTer4
ENST00000688922.1:c.799dup
ENST00000693560.1:c.1397dup ENSP00000509861.1:p.Ser467LysfsTer4
ENST00000371953.8:c.878dup MANE Select ENSP00000361021.3:p.Ser294LysfsTer4
ENST00000371953.7:c.878dup ENSP00000361021.3:p.Ser294LysfsTer4
ENST00000472832.2:c.305dup ENSP00000483066.1:p.Ser103LysfsTer4
NM_000314.5:c.878dup NP_000305.3:p.Ser294LysfsTer4
NM_000314.6:c.878dup NP_000305.3:p.Ser294LysfsTer4
NM_001304717.2:c.1397dup NP_001291646.2:p.Ser467LysfsTer4
NM_001304718.1:c.287dup NP_001291647.1:p.Ser97LysfsTer4
XM_006717926.2:c.833dup XP_006717989.1:p.Ser279LysfsTer4
XM_011539981.1:c.878dup XP_011538283.1:p.Ser294LysfsTer4
XM_011539982.1:c.782dup XP_011538284.1:p.Ser262LysfsTer4
XR_945791.1:n.1448dup
NM_000314.7:c.878dup NP_000305.3:p.Ser294LysfsTer4
NM_001304717.5:c.1397dup NP_001291646.4:p.Ser467LysfsTer4
NM_001304718.2:c.287dup NP_001291647.1:p.Ser97LysfsTer4
NM_000314.8:c.878dup MANE Select NP_000305.3:p.Ser294LysfsTer4