Canonical Allele Identifier: CA645369474
Community Standard Title: NM_000314.8(PTEN):c.270dup (p.Glu91Ter)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933029dup , CM000672.2:g.87933029dup GRCh38
NC_000010.10:g.89692786dup , CM000672.1:g.89692786dup GRCh37
NC_000010.9:g.89682766dup NCBI36
NG_007466.2:g.74591dup , LRG_311:g.74591dup

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.270dup MANE Select NP_000305.3:p.Glu91Ter
ENST00000371953.8:c.270dup MANE Select ENSP00000361021.3:p.Glu91Ter
NM_000314.5:c.270dup NP_000305.3:p.Glu91Ter
NM_000314.6:c.270dup NP_000305.3:p.Glu91Ter
NM_000314.7:c.270dup NP_000305.3:p.Glu91Ter
NM_001304717.2:c.789dup NP_001291646.2:p.Glu264Ter
NM_001304717.5:c.789dup NP_001291646.4:p.Glu264Ter
NM_001304718.1:c.-481dup NP_001291647.1:n.-481dup
NM_001304718.2:c.-481dup NP_001291647.1:n.-481dup
ENST00000371953.7:c.270dup ENSP00000361021.3:p.Glu91Ter
ENST00000472832.3:c.270dup ENSP00000483066.2:p.Glu91Ter
ENST00000498703.1:n.96dup
ENST00000610634.1:c.168dup ENSP00000477517.1:p.Glu57Ter
ENST00000686459.1:c.270dup ENSP00000508909.1:p.Glu91Ter
ENST00000688158.1:c.*381dup ENSP00000509254.1:n.*381dup
ENST00000688158.2:n.1005dup
ENST00000688308.1:c.270dup ENSP00000508752.1:p.Glu91Ter
ENST00000688922.1:c.191dup
ENST00000688922.2:c.*100dup ENSP00000508742.2:n.*100dup
ENST00000693560.1:c.789dup ENSP00000509861.1:p.Glu264Ter
ENST00000700021.1:c.225dup ENSP00000514757.1:p.Glu76Ter
ENST00000700022.1:c.270dup ENSP00000514758.1:p.Glu91Ter
ENST00000700029.1:c.104dup
ENST00000700029.2:c.270dup ENSP00000514759.2:p.Glu91Ter
ENST00000706954.1:c.270dup ENSP00000516674.1:p.Glu91Ter
ENST00000706955.1:c.*305dup ENSP00000516675.1:n.*305dup
ENST00000710265.1:c.270dup ENSP00000518161.1:p.Glu91Ter
XM_006717926.2:c.225dup XP_006717989.1:p.Glu76Ter
XM_011539981.1:c.270dup XP_011538283.1:p.Glu91Ter
XM_011539982.1:c.174dup XP_011538284.1:p.Glu59Ter
XR_945789.1:n.982dup
XR_945790.1:n.982dup
XR_945791.1:n.982dup