Canonical Allele Identifier: CA1926157305
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894084_87894085delinsAG , CM000672.2:g.87894084_87894085delinsAG GRCh38
NC_000010.10:g.89653841_89653842delinsAG , CM000672.1:g.89653841_89653842delinsAG GRCh37
NC_000010.9:g.89643821_89643822delinsAG NCBI36
NG_007466.2:g.35646_35647delinsAG , LRG_311:g.35646_35647delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.139_140delinsAG ENSP00000514759.2:p.Arg47=
ENST00000710265.1:c.139_140delinsAG ENSP00000518161.1:p.Arg47=
ENST00000472832.3:c.139_140delinsAG ENSP00000483066.2:p.Arg47=
ENST00000688158.2:n.899+13646_899+13647delinsAG
ENST00000688922.2:c.139_140delinsAG ENSP00000508742.2:p.Arg47=
ENST00000700021.1:c.139_140delinsAG ENSP00000514757.1:p.Arg47=
ENST00000700022.1:c.139_140delinsAG ENSP00000514758.1:p.Arg47=
ENST00000706954.1:c.139_140delinsAG ENSP00000516674.1:p.Arg47=
ENST00000706955.1:c.*174_*175delinsAG ENSP00000516675.1:n.*174_*175delinsAG
ENST00000686459.1:c.139_140delinsAG ENSP00000508909.1:p.Arg47=
ENST00000688158.1:c.*275+13646_*275+13647delinsAG ENSP00000509254.1:n.*275+13646_*275+13647delinsAG
ENST00000688308.1:c.139_140delinsAG ENSP00000508752.1:p.Arg47=
ENST00000688922.1:c.8_9delinsAG
ENST00000693560.1:c.658_659delinsAG ENSP00000509861.1:p.Arg220=
ENST00000371953.8:c.139_140delinsAG MANE Select ENSP00000361021.3:p.Arg47=
ENST00000371953.7:c.139_140delinsAG ENSP00000361021.3:p.Arg47=
ENST00000462694.1:n.141_142delinsAG
ENST00000610634.1:c.37_38delinsAG ENSP00000477517.1:p.Arg13=
NM_000314.5:c.139_140delinsAG NP_000305.3:p.Arg47=
NM_000314.6:c.139_140delinsAG NP_000305.3:p.Arg47=
NM_001304717.2:c.658_659delinsAG NP_001291646.2:p.Arg220=
NM_001304718.1:c.-567_-566delinsAG NP_001291647.1:n.-567_-566delinsAG
XM_006717926.2:c.139_140delinsAG XP_006717989.1:p.Arg47=
XM_011539981.1:c.139_140delinsAG XP_011538283.1:p.Arg47=
XM_011539982.1:c.68+13646_68+13647delinsAG XP_011538284.1:n.68+13646_68+13647delinsAG
XR_945789.1:n.851_852delinsAG
XR_945790.1:n.851_852delinsAG
XR_945791.1:n.851_852delinsAG
NM_000314.7:c.139_140delinsAG NP_000305.3:p.Arg47=
NM_001304717.5:c.658_659delinsAG NP_001291646.4:p.Arg220=
NM_001304718.2:c.-567_-566delinsAG NP_001291647.1:n.-567_-566delinsAG
NM_000314.8:c.139_140delinsAG MANE Select NP_000305.3:p.Arg47=