Canonical Allele Identifier: CA470669916
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957976dup , CM000672.2:g.87957976dup GRCh38
NC_000010.10:g.89717733dup , CM000672.1:g.89717733dup GRCh37
NC_000010.9:g.89707713dup NCBI36
NG_007466.2:g.99538dup , LRG_311:g.99538dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.758dup ENSP00000514759.2:p.Lys254GlnfsTer?
ENST00000710265.1:c.758dup ENSP00000518161.1:p.Lys254GlnfsTer?
ENST00000472832.3:c.758dup ENSP00000483066.2:p.Lys254GlnfsTer?
ENST00000688158.2:n.1493dup
ENST00000688922.2:c.*588dup ENSP00000508742.2:n.*588dup
ENST00000700021.1:c.713dup ENSP00000514757.1:p.Lys239GlnfsTer?
ENST00000700022.1:c.*97dup ENSP00000514758.1:n.*97dup
ENST00000700023.1:n.1916dup
ENST00000700024.1:n.2150dup
ENST00000700025.1:n.1527dup
ENST00000700026.1:n.395dup
ENST00000700029.1:c.592dup
ENST00000706954.1:c.758dup ENSP00000516674.1:p.Lys254GlnfsTer?
ENST00000706955.1:c.*793dup ENSP00000516675.1:n.*793dup
ENST00000686459.1:c.*344dup ENSP00000508909.1:n.*344dup
ENST00000688158.1:c.*869dup ENSP00000509254.1:n.*869dup
ENST00000688308.1:c.758dup ENSP00000508752.1:p.Lys254GlnfsTer?
ENST00000688922.1:c.679dup
ENST00000693560.1:c.1277dup ENSP00000509861.1:p.Lys427GlnfsTer?
ENST00000371953.8:c.758dup MANE Select ENSP00000361021.3:p.Lys254GlnfsTer?
ENST00000371953.7:c.758dup ENSP00000361021.3:p.Lys254GlnfsTer?
ENST00000472832.2:c.185dup ENSP00000483066.1:p.Lys63GlnfsTer?
NM_000314.5:c.758dup NP_000305.3:p.Lys254GlnfsTer?
NM_000314.6:c.758dup NP_000305.3:p.Lys254GlnfsTer?
NM_001304717.2:c.1277dup NP_001291646.2:p.Lys427GlnfsTer?
NM_001304718.1:c.167dup NP_001291647.1:p.Lys57GlnfsTer?
XM_006717926.2:c.713dup XP_006717989.1:p.Lys239GlnfsTer?
XM_011539981.1:c.758dup XP_011538283.1:p.Lys254GlnfsTer?
XM_011539982.1:c.662dup XP_011538284.1:p.Lys222GlnfsTer?
XR_945791.1:n.1328dup
NM_000314.7:c.758dup NP_000305.3:p.Lys254GlnfsTer?
NM_001304717.5:c.1277dup NP_001291646.4:p.Lys427GlnfsTer?
NM_001304718.2:c.167dup NP_001291647.1:p.Lys57GlnfsTer?
NM_000314.8:c.758dup MANE Select NP_000305.3:p.Lys254GlnfsTer?