Canonical Allele Identifier: CA658822955
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 545873
ClinVar RCV Id: RCV000657466
dbSNP Id: rs1554825240

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957981dup , CM000672.2:g.87957981dup GRCh38
NC_000010.10:g.89717738dup , CM000672.1:g.89717738dup GRCh37
NC_000010.9:g.89707718dup NCBI36
NG_007466.2:g.99543dup , LRG_311:g.99543dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.763dup ENSP00000514759.2:p.Val255GlyfsTer?
ENST00000710265.1:c.763dup ENSP00000518161.1:p.Val255GlyfsTer?
ENST00000472832.3:c.763dup ENSP00000483066.2:p.Val255GlyfsTer?
ENST00000688158.2:n.1498dup
ENST00000688922.2:c.*593dup ENSP00000508742.2:n.*593dup
ENST00000700021.1:c.718dup ENSP00000514757.1:p.Val240GlyfsTer?
ENST00000700022.1:c.*102dup ENSP00000514758.1:n.*102dup
ENST00000700023.1:n.1921dup
ENST00000700024.1:n.2155dup
ENST00000700025.1:n.1532dup
ENST00000700026.1:n.400dup
ENST00000700029.1:c.597dup
ENST00000706954.1:c.763dup ENSP00000516674.1:p.Val255GlyfsTer?
ENST00000706955.1:c.*798dup ENSP00000516675.1:n.*798dup
ENST00000686459.1:c.*349dup ENSP00000508909.1:n.*349dup
ENST00000688158.1:c.*874dup ENSP00000509254.1:n.*874dup
ENST00000688308.1:c.763dup ENSP00000508752.1:p.Val255GlyfsTer?
ENST00000688922.1:c.684dup
ENST00000693560.1:c.1282dup ENSP00000509861.1:p.Val428GlyfsTer?
ENST00000371953.8:c.763dup MANE Select ENSP00000361021.3:p.Val255GlyfsTer?
ENST00000371953.7:c.763dup ENSP00000361021.3:p.Val255GlyfsTer?
ENST00000472832.2:c.190dup ENSP00000483066.1:p.Val64GlyfsTer?
NM_000314.5:c.763dup NP_000305.3:p.Val255GlyfsTer?
NM_000314.6:c.763dup NP_000305.3:p.Val255GlyfsTer?
NM_001304717.2:c.1282dup NP_001291646.2:p.Val428GlyfsTer?
NM_001304718.1:c.172dup NP_001291647.1:p.Val58GlyfsTer?
XM_006717926.2:c.718dup XP_006717989.1:p.Val240GlyfsTer?
XM_011539981.1:c.763dup XP_011538283.1:p.Val255GlyfsTer?
XM_011539982.1:c.667dup XP_011538284.1:p.Val223GlyfsTer?
XR_945791.1:n.1333dup
NM_000314.7:c.763dup NP_000305.3:p.Val255GlyfsTer?
NM_001304717.5:c.1282dup NP_001291646.4:p.Val428GlyfsTer?
NM_001304718.2:c.172dup NP_001291647.1:p.Val58GlyfsTer?
NM_000314.8:c.763dup MANE Select NP_000305.3:p.Val255GlyfsTer?