Canonical Allele Identifier: CA2499220469
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1075090
ClinVar RCV Id: RCV001388585
dbSNP Id: rs2132277715

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958003dup , CM000672.2:g.87958003dup GRCh38
NC_000010.10:g.89717760dup , CM000672.1:g.89717760dup GRCh37
NC_000010.9:g.89707740dup NCBI36
NG_007466.2:g.99565dup , LRG_311:g.99565dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.785dup ENSP00000514759.2:p.Asn262LysfsTer?
ENST00000710265.1:c.785dup ENSP00000518161.1:p.Asn262LysfsTer?
ENST00000472832.3:c.785dup ENSP00000483066.2:p.Asn262LysfsTer?
ENST00000688158.2:n.1520dup
ENST00000688922.2:c.*615dup ENSP00000508742.2:n.*615dup
ENST00000700021.1:c.740dup ENSP00000514757.1:p.Asn247LysfsTer?
ENST00000700022.1:c.*124dup ENSP00000514758.1:n.*124dup
ENST00000700023.1:n.1943dup
ENST00000700024.1:n.2177dup
ENST00000700025.1:n.1554dup
ENST00000700026.1:n.422dup
ENST00000700029.1:c.619dup
ENST00000706954.1:c.785dup ENSP00000516674.1:p.Asn262LysfsTer?
ENST00000706955.1:c.*820dup ENSP00000516675.1:n.*820dup
ENST00000686459.1:c.*371dup ENSP00000508909.1:n.*371dup
ENST00000688158.1:c.*896dup ENSP00000509254.1:n.*896dup
ENST00000688308.1:c.785dup ENSP00000508752.1:p.Asn262LysfsTer?
ENST00000688922.1:c.706dup
ENST00000693560.1:c.1304dup ENSP00000509861.1:p.Asn435LysfsTer?
ENST00000371953.8:c.785dup MANE Select ENSP00000361021.3:p.Asn262LysfsTer?
ENST00000371953.7:c.785dup ENSP00000361021.3:p.Asn262LysfsTer?
ENST00000472832.2:c.212dup ENSP00000483066.1:p.Asn71LysfsTer?
NM_000314.5:c.785dup NP_000305.3:p.Asn262LysfsTer?
NM_000314.6:c.785dup NP_000305.3:p.Asn262LysfsTer?
NM_001304717.2:c.1304dup NP_001291646.2:p.Asn435LysfsTer?
NM_001304718.1:c.194dup NP_001291647.1:p.Asn65LysfsTer?
XM_006717926.2:c.740dup XP_006717989.1:p.Asn247LysfsTer?
XM_011539981.1:c.785dup XP_011538283.1:p.Asn262LysfsTer?
XM_011539982.1:c.689dup XP_011538284.1:p.Asn230LysfsTer?
XR_945791.1:n.1355dup
NM_000314.7:c.785dup NP_000305.3:p.Asn262LysfsTer?
NM_001304717.5:c.1304dup NP_001291646.4:p.Asn435LysfsTer?
NM_001304718.2:c.194dup NP_001291647.1:p.Asn65LysfsTer?
NM_000314.8:c.785dup MANE Select NP_000305.3:p.Asn262LysfsTer?