Canonical Allele Identifier: CA891835301
Community Standard Title: NM_000314.8(PTEN):c.140_141delinsCT (p.Arg47Thr)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87894085_87894086delinsCT , CM000672.2:g.87894085_87894086delinsCT GRCh38
NC_000010.10:g.89653842_89653843delinsCT , CM000672.1:g.89653842_89653843delinsCT GRCh37
NC_000010.9:g.89643822_89643823delinsCT NCBI36
NG_007466.2:g.35647_35648delinsCT , LRG_311:g.35647_35648delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.140_141delinsCT MANE Select NP_000305.3:p.Arg47Thr
ENST00000371953.8:c.140_141delinsCT MANE Select ENSP00000361021.3:p.Arg47Thr
NM_000314.5:c.140_141delinsCT NP_000305.3:p.Arg47Thr
NM_000314.6:c.140_141delinsCT NP_000305.3:p.Arg47Thr
NM_000314.7:c.140_141delinsCT NP_000305.3:p.Arg47Thr
NM_001304717.2:c.659_660delinsCT NP_001291646.2:p.Arg220Thr
NM_001304717.5:c.659_660delinsCT NP_001291646.4:p.Arg220Thr
NM_001304718.1:c.-566_-565delinsCT NP_001291647.1:n.-566_-565delinsCT
NM_001304718.2:c.-566_-565delinsCT NP_001291647.1:n.-566_-565delinsCT
ENST00000371953.7:c.140_141delinsCT ENSP00000361021.3:p.Arg47Thr
ENST00000462694.1:n.142_143delinsCT
ENST00000472832.3:c.140_141delinsCT ENSP00000483066.2:p.Arg47Thr
ENST00000610634.1:c.38_39delinsCT ENSP00000477517.1:p.Arg13Thr
ENST00000686459.1:c.140_141delinsCT ENSP00000508909.1:p.Arg47Thr
ENST00000688158.1:c.*275+13647_*275+13648delinsCT ENSP00000509254.1:n.*275+13647_*275+13648delinsCT
ENST00000688158.2:n.899+13647_899+13648delinsCT
ENST00000688308.1:c.140_141delinsCT ENSP00000508752.1:p.Arg47Thr
ENST00000688922.1:c.9_10delinsCT
ENST00000688922.2:c.140_141delinsCT ENSP00000508742.2:p.Arg47Thr
ENST00000693560.1:c.659_660delinsCT ENSP00000509861.1:p.Arg220Thr
ENST00000700021.1:c.140_141delinsCT ENSP00000514757.1:p.Arg47Thr
ENST00000700022.1:c.140_141delinsCT ENSP00000514758.1:p.Arg47Thr
ENST00000700029.2:c.140_141delinsCT ENSP00000514759.2:p.Arg47Thr
ENST00000706954.1:c.140_141delinsCT ENSP00000516674.1:p.Arg47Thr
ENST00000706955.1:c.*175_*176delinsCT ENSP00000516675.1:n.*175_*176delinsCT
ENST00000710265.1:c.140_141delinsCT ENSP00000518161.1:p.Arg47Thr
XM_006717926.2:c.140_141delinsCT XP_006717989.1:p.Arg47Thr
XM_011539981.1:c.140_141delinsCT XP_011538283.1:p.Arg47Thr
XM_011539982.1:c.68+13647_68+13648delinsCT XP_011538284.1:n.68+13647_68+13648delinsCT
XR_945789.1:n.852_853delinsCT
XR_945790.1:n.852_853delinsCT
XR_945791.1:n.852_853delinsCT