Canonical Allele Identifier: CA2695203401
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957980dup , CM000672.2:g.87957980dup GRCh38
NC_000010.10:g.89717737dup , CM000672.1:g.89717737dup GRCh37
NC_000010.9:g.89707717dup NCBI36
NG_007466.2:g.99542dup , LRG_311:g.99542dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.762dup ENSP00000514759.2:p.Val255SerfsTer?
ENST00000710265.1:c.762dup ENSP00000518161.1:p.Val255SerfsTer?
ENST00000472832.3:c.762dup ENSP00000483066.2:p.Val255SerfsTer?
ENST00000688158.2:n.1497dup
ENST00000688922.2:c.*592dup ENSP00000508742.2:n.*592dup
ENST00000700021.1:c.717dup ENSP00000514757.1:p.Val240SerfsTer?
ENST00000700022.1:c.*101dup ENSP00000514758.1:n.*101dup
ENST00000700023.1:n.1920dup
ENST00000700024.1:n.2154dup
ENST00000700025.1:n.1531dup
ENST00000700026.1:n.399dup
ENST00000700029.1:c.596dup
ENST00000706954.1:c.762dup ENSP00000516674.1:p.Val255SerfsTer?
ENST00000706955.1:c.*797dup ENSP00000516675.1:n.*797dup
ENST00000686459.1:c.*348dup ENSP00000508909.1:n.*348dup
ENST00000688158.1:c.*873dup ENSP00000509254.1:n.*873dup
ENST00000688308.1:c.762dup ENSP00000508752.1:p.Val255SerfsTer?
ENST00000688922.1:c.683dup
ENST00000693560.1:c.1281dup ENSP00000509861.1:p.Val428SerfsTer?
ENST00000371953.8:c.762dup MANE Select ENSP00000361021.3:p.Val255SerfsTer?
ENST00000371953.7:c.762dup ENSP00000361021.3:p.Val255SerfsTer?
ENST00000472832.2:c.189dup ENSP00000483066.1:p.Val64SerfsTer?
NM_000314.5:c.762dup NP_000305.3:p.Val255SerfsTer?
NM_000314.6:c.762dup NP_000305.3:p.Val255SerfsTer?
NM_001304717.2:c.1281dup NP_001291646.2:p.Val428SerfsTer?
NM_001304718.1:c.171dup NP_001291647.1:p.Val58SerfsTer?
XM_006717926.2:c.717dup XP_006717989.1:p.Val240SerfsTer?
XM_011539981.1:c.762dup XP_011538283.1:p.Val255SerfsTer?
XM_011539982.1:c.666dup XP_011538284.1:p.Val223SerfsTer?
XR_945791.1:n.1332dup
NM_000314.7:c.762dup NP_000305.3:p.Val255SerfsTer?
NM_001304717.5:c.1281dup NP_001291646.4:p.Val428SerfsTer?
NM_001304718.2:c.171dup NP_001291647.1:p.Val58SerfsTer?
NM_000314.8:c.762dup MANE Select NP_000305.3:p.Val255SerfsTer?