Canonical Allele Identifier: CA645554065
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957998dup , CM000672.2:g.87957998dup GRCh38
NC_000010.10:g.89717755dup , CM000672.1:g.89717755dup GRCh37
NC_000010.9:g.89707735dup NCBI36
NG_007466.2:g.99560dup , LRG_311:g.99560dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.780dup ENSP00000514759.2:p.Gln261ThrfsTer?
ENST00000710265.1:c.780dup ENSP00000518161.1:p.Gln261ThrfsTer?
ENST00000472832.3:c.780dup ENSP00000483066.2:p.Gln261ThrfsTer?
ENST00000688158.2:n.1515dup
ENST00000688922.2:c.*610dup ENSP00000508742.2:n.*610dup
ENST00000700021.1:c.735dup ENSP00000514757.1:p.Gln246ThrfsTer?
ENST00000700022.1:c.*119dup ENSP00000514758.1:n.*119dup
ENST00000700023.1:n.1938dup
ENST00000700024.1:n.2172dup
ENST00000700025.1:n.1549dup
ENST00000700026.1:n.417dup
ENST00000700029.1:c.614dup
ENST00000706954.1:c.780dup ENSP00000516674.1:p.Gln261ThrfsTer?
ENST00000706955.1:c.*815dup ENSP00000516675.1:n.*815dup
ENST00000686459.1:c.*366dup ENSP00000508909.1:n.*366dup
ENST00000688158.1:c.*891dup ENSP00000509254.1:n.*891dup
ENST00000688308.1:c.780dup ENSP00000508752.1:p.Gln261ThrfsTer?
ENST00000688922.1:c.701dup
ENST00000693560.1:c.1299dup ENSP00000509861.1:p.Gln434ThrfsTer?
ENST00000371953.8:c.780dup MANE Select ENSP00000361021.3:p.Gln261ThrfsTer?
ENST00000371953.7:c.780dup ENSP00000361021.3:p.Gln261ThrfsTer?
ENST00000472832.2:c.207dup ENSP00000483066.1:p.Gln70ThrfsTer?
NM_000314.5:c.780dup NP_000305.3:p.Gln261ThrfsTer?
NM_000314.6:c.780dup NP_000305.3:p.Gln261ThrfsTer?
NM_001304717.2:c.1299dup NP_001291646.2:p.Gln434ThrfsTer?
NM_001304718.1:c.189dup NP_001291647.1:p.Gln64ThrfsTer?
XM_006717926.2:c.735dup XP_006717989.1:p.Gln246ThrfsTer?
XM_011539981.1:c.780dup XP_011538283.1:p.Gln261ThrfsTer?
XM_011539982.1:c.684dup XP_011538284.1:p.Gln229ThrfsTer?
XR_945791.1:n.1350dup
NM_000314.7:c.780dup NP_000305.3:p.Gln261ThrfsTer?
NM_001304717.5:c.1299dup NP_001291646.4:p.Gln434ThrfsTer?
NM_001304718.2:c.189dup NP_001291647.1:p.Gln64ThrfsTer?
NM_000314.8:c.780dup MANE Select NP_000305.3:p.Gln261ThrfsTer?