Canonical Allele Identifier: CA2695200876
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2674330
ClinVar RCV Id: RCV003452526

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957912dup , CM000672.2:g.87957912dup GRCh38
NC_000010.10:g.89717669dup , CM000672.1:g.89717669dup GRCh37
NC_000010.9:g.89707649dup NCBI36
NG_007466.2:g.99474dup , LRG_311:g.99474dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.694dup ENSP00000514759.2:p.Thr232AsnfsTer11
ENST00000710265.1:c.694dup ENSP00000518161.1:p.Thr232AsnfsTer11
ENST00000472832.3:c.694dup ENSP00000483066.2:p.Thr232AsnfsTer11
ENST00000688158.2:n.1429dup
ENST00000688922.2:c.*524dup ENSP00000508742.2:n.*524dup
ENST00000700021.1:c.649dup ENSP00000514757.1:p.Thr217AsnfsTer11
ENST00000700022.1:c.*33dup ENSP00000514758.1:n.*33dup
ENST00000700023.1:n.1852dup
ENST00000700024.1:n.2086dup
ENST00000700025.1:n.1463dup
ENST00000700026.1:n.331dup
ENST00000700029.1:c.528dup
ENST00000706954.1:c.694dup ENSP00000516674.1:p.Thr232AsnfsTer11
ENST00000706955.1:c.*729dup ENSP00000516675.1:n.*729dup
ENST00000686459.1:c.*280dup ENSP00000508909.1:n.*280dup
ENST00000688158.1:c.*805dup ENSP00000509254.1:n.*805dup
ENST00000688308.1:c.694dup ENSP00000508752.1:p.Thr232AsnfsTer11
ENST00000688922.1:c.615dup
ENST00000693560.1:c.1213dup ENSP00000509861.1:p.Thr405AsnfsTer11
ENST00000371953.8:c.694dup MANE Select ENSP00000361021.3:p.Thr232AsnfsTer11
ENST00000371953.7:c.694dup ENSP00000361021.3:p.Thr232AsnfsTer11
ENST00000472832.2:c.121dup ENSP00000483066.1:p.Thr41AsnfsTer11
NM_000314.5:c.694dup NP_000305.3:p.Thr232AsnfsTer11
NM_000314.6:c.694dup NP_000305.3:p.Thr232AsnfsTer11
NM_001304717.2:c.1213dup NP_001291646.2:p.Thr405AsnfsTer11
NM_001304718.1:c.103dup NP_001291647.1:p.Thr35AsnfsTer11
XM_006717926.2:c.649dup XP_006717989.1:p.Thr217AsnfsTer11
XM_011539981.1:c.694dup XP_011538283.1:p.Thr232AsnfsTer11
XM_011539982.1:c.598dup XP_011538284.1:p.Thr200AsnfsTer11
XR_945791.1:n.1264dup
NM_000314.7:c.694dup NP_000305.3:p.Thr232AsnfsTer11
NM_001304717.5:c.1213dup NP_001291646.4:p.Thr405AsnfsTer11
NM_001304718.2:c.103dup NP_001291647.1:p.Thr35AsnfsTer11
NM_000314.8:c.694dup MANE Select NP_000305.3:p.Thr232AsnfsTer11