Canonical Allele Identifier: CA2580082318
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1761179
ClinVar RCV Id: RCV002416683

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.790dup ENSP00000514759.2:p.Met264AsnfsTer?
ENST00000710265.1:c.790dup ENSP00000518161.1:p.Met264AsnfsTer?
ENST00000472832.3:c.790dup ENSP00000483066.2:p.Met264AsnfsTer?
ENST00000688158.2:n.1525dup
ENST00000688922.2:c.*620dup ENSP00000508742.2:n.*620dup
ENST00000700021.1:c.745dup ENSP00000514757.1:p.Met249AsnfsTer?
ENST00000700022.1:c.*129dup ENSP00000514758.1:n.*129dup
ENST00000700023.1:n.1948dup
ENST00000700024.1:n.2182dup
ENST00000700025.1:n.1559dup
ENST00000700026.1:n.427dup
ENST00000700029.1:c.624dup
ENST00000706954.1:c.790dup ENSP00000516674.1:p.Met264AsnfsTer?
ENST00000706955.1:c.*825dup ENSP00000516675.1:n.*825dup
ENST00000686459.1:c.*376dup ENSP00000508909.1:n.*376dup
ENST00000688158.1:c.*901dup ENSP00000509254.1:n.*901dup
ENST00000688308.1:c.790dup ENSP00000508752.1:p.Met264AsnfsTer?
ENST00000688922.1:c.711dup
ENST00000693560.1:c.1309dup ENSP00000509861.1:p.Met437AsnfsTer?
ENST00000371953.8:c.790dup MANE Select ENSP00000361021.3:p.Met264AsnfsTer?
ENST00000371953.7:c.790dup ENSP00000361021.3:p.Met264AsnfsTer?
ENST00000472832.2:c.217dup ENSP00000483066.1:p.Met73AsnfsTer?
NM_000314.5:c.790dup NP_000305.3:p.Met264AsnfsTer?
NM_000314.6:c.790dup NP_000305.3:p.Met264AsnfsTer?
NM_001304717.2:c.1309dup NP_001291646.2:p.Met437AsnfsTer?
NM_001304718.1:c.199dup NP_001291647.1:p.Met67AsnfsTer?
XM_006717926.2:c.745dup XP_006717989.1:p.Met249AsnfsTer?
XM_011539981.1:c.790dup XP_011538283.1:p.Met264AsnfsTer?
XM_011539982.1:c.694dup XP_011538284.1:p.Met232AsnfsTer?
XR_945791.1:n.1360dup
NM_000314.7:c.790dup NP_000305.3:p.Met264AsnfsTer?
NM_001304717.5:c.1309dup NP_001291646.4:p.Met437AsnfsTer?
NM_001304718.2:c.199dup NP_001291647.1:p.Met67AsnfsTer?
NM_000314.8:c.790dup MANE Select NP_000305.3:p.Met264AsnfsTer?