Canonical Allele Identifier: CA916081599
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 855331
ClinVar RCV Id: RCV001060579
dbSNP Id: rs1646757490

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960993dup , CM000672.2:g.87960993dup GRCh38
NC_000010.10:g.89720750dup , CM000672.1:g.89720750dup GRCh37
NC_000010.9:g.89710730dup NCBI36
NG_007466.2:g.102555dup , LRG_311:g.102555dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.994dup ENSP00000514759.2:p.Asp332GlyfsTer2
ENST00000710265.1:c.901dup ENSP00000518161.1:p.Asp301GlyfsTer2
ENST00000472832.3:c.901dup ENSP00000483066.2:p.Asp301GlyfsTer2
ENST00000688158.2:n.1636dup
ENST00000688922.2:c.*731dup ENSP00000508742.2:n.*731dup
ENST00000700021.1:c.856dup ENSP00000514757.1:p.Asp286GlyfsTer2
ENST00000700022.1:c.*240dup ENSP00000514758.1:n.*240dup
ENST00000700023.1:n.2059dup
ENST00000700024.1:n.2293dup
ENST00000700025.1:n.1670dup
ENST00000700026.1:n.538dup
ENST00000706954.1:c.901dup ENSP00000516674.1:p.Asp301GlyfsTer2
ENST00000706955.1:c.*936dup ENSP00000516675.1:n.*936dup
ENST00000686459.1:c.*487dup ENSP00000508909.1:n.*487dup
ENST00000688158.1:c.*1012dup ENSP00000509254.1:n.*1012dup
ENST00000688308.1:c.901dup ENSP00000508752.1:p.Asp301GlyfsTer2
ENST00000688922.1:c.822dup
ENST00000693560.1:c.1420dup ENSP00000509861.1:p.Asp474GlyfsTer2
ENST00000371953.8:c.901dup MANE Select ENSP00000361021.3:p.Asp301GlyfsTer2
ENST00000371953.7:c.901dup ENSP00000361021.3:p.Asp301GlyfsTer2
ENST00000472832.2:c.328dup ENSP00000483066.1:p.Asp110GlyfsTer2
NM_000314.5:c.901dup NP_000305.3:p.Asp301GlyfsTer2
NM_000314.6:c.901dup NP_000305.3:p.Asp301GlyfsTer2
NM_001304717.2:c.1420dup NP_001291646.2:p.Asp474GlyfsTer2
NM_001304718.1:c.310dup NP_001291647.1:p.Asp104GlyfsTer2
XM_006717926.2:c.856dup XP_006717989.1:p.Asp286GlyfsTer2
XM_011539981.1:c.901dup XP_011538283.1:p.Asp301GlyfsTer2
XM_011539982.1:c.805dup XP_011538284.1:p.Asp269GlyfsTer2
XR_945791.1:n.1471dup
NM_000314.7:c.901dup NP_000305.3:p.Asp301GlyfsTer2
NM_001304717.5:c.1420dup NP_001291646.4:p.Asp474GlyfsTer2
NM_001304718.2:c.310dup NP_001291647.1:p.Asp104GlyfsTer2
NM_000314.8:c.901dup MANE Select NP_000305.3:p.Asp301GlyfsTer2