Canonical Allele Identifier: CA2579986003

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965442_87965444del , CM000672.2:g.87965442_87965444del	GRCh38
NC_000010.10:g.89725199_89725201del , CM000672.1:g.89725199_89725201del	GRCh37
NC_000010.9:g.89715179_89715181del	NCBI36
NG_007466.2:g.107004_107006del , LRG_311:g.107004_107006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1275_1277del	ENSP00000514759.2:p.Glu425del
ENST00000710265.1:c.*211_*213del	ENSP00000518161.1:n.*211_*213del
ENST00000688158.2:n.1917_1919del
ENST00000688922.2:c.*1012_*1014del	ENSP00000508742.2:n.*1012_*1014del
ENST00000700021.1:c.1137_1139del	ENSP00000514757.1:p.Glu379del
ENST00000700022.1:c.*521_*523del	ENSP00000514758.1:n.*521_*523del
ENST00000700023.1:n.2340_2342del
ENST00000700024.1:n.2574_2576del
ENST00000706954.1:c.1182_1184del	ENSP00000516674.1:p.Glu394del
ENST00000706955.1:c.*1217_*1219del	ENSP00000516675.1:n.*1217_*1219del
ENST00000686459.1:c.*768_*770del	ENSP00000508909.1:n.*768_*770del
ENST00000688158.1:c.*1293_*1295del	ENSP00000509254.1:n.*1293_*1295del
ENST00000688308.1:c.1182_1184del	ENSP00000508752.1:p.Glu394del
ENST00000688922.1:c.1103_1105del
ENST00000693560.1:c.1701_1703del	ENSP00000509861.1:p.Glu567del
ENST00000371953.8:c.1182_1184del MANE Select	ENSP00000361021.3:p.Glu394del
ENST00000371953.7:c.1182_1184del	ENSP00000361021.3:p.Glu394del
NM_000314.5:c.1182_1184del	NP_000305.3:p.Glu394del
NM_000314.6:c.1182_1184del	NP_000305.3:p.Glu394del
NM_001304717.2:c.1701_1703del	NP_001291646.2:p.Glu567del
NM_001304718.1:c.591_593del	NP_001291647.1:p.Glu197del
XM_006717926.2:c.1137_1139del	XP_006717989.1:p.Glu379del
XM_011539982.1:c.1086_1088del	XP_011538284.1:p.Glu362del
XR_945791.1:n.1752_1754del
NM_000314.7:c.1182_1184del	NP_000305.3:p.Glu394del
NM_001304717.5:c.1701_1703del	NP_001291646.4:p.Glu567del
NM_001304718.2:c.591_593del	NP_001291647.1:p.Glu197del
NM_000314.8:c.1182_1184del MANE Select	NP_000305.3:p.Glu394del