Canonical Allele Identifier: CA2579926437

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965448_87965450del , CM000672.2:g.87965448_87965450del	GRCh38
NC_000010.10:g.89725205_89725207del , CM000672.1:g.89725205_89725207del	GRCh37
NC_000010.9:g.89715185_89715187del	NCBI36
NG_007466.2:g.107010_107012del , LRG_311:g.107010_107012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1281_1283del	ENSP00000514759.2:p.Gln427del
ENST00000710265.1:c.*217_*219del	ENSP00000518161.1:n.*217_*219del
ENST00000688158.2:n.1923_1925del
ENST00000688922.2:c.*1018_*1020del	ENSP00000508742.2:n.*1018_*1020del
ENST00000700021.1:c.1143_1145del	ENSP00000514757.1:p.Gln381del
ENST00000700022.1:c.*527_*529del	ENSP00000514758.1:n.*527_*529del
ENST00000700023.1:n.2346_2348del
ENST00000700024.1:n.2580_2582del
ENST00000706954.1:c.1188_1190del	ENSP00000516674.1:p.Gln396del
ENST00000706955.1:c.*1223_*1225del	ENSP00000516675.1:n.*1223_*1225del
ENST00000686459.1:c.*774_*776del	ENSP00000508909.1:n.*774_*776del
ENST00000688158.1:c.*1299_*1301del	ENSP00000509254.1:n.*1299_*1301del
ENST00000688308.1:c.1188_1190del	ENSP00000508752.1:p.Gln396del
ENST00000688922.1:c.1109_1111del
ENST00000693560.1:c.1707_1709del	ENSP00000509861.1:p.Gln569del
ENST00000371953.8:c.1188_1190del MANE Select	ENSP00000361021.3:p.Gln396del
ENST00000371953.7:c.1188_1190del	ENSP00000361021.3:p.Gln396del
NM_000314.5:c.1188_1190del	NP_000305.3:p.Gln396del
NM_000314.6:c.1188_1190del	NP_000305.3:p.Gln396del
NM_001304717.2:c.1707_1709del	NP_001291646.2:p.Gln569del
NM_001304718.1:c.597_599del	NP_001291647.1:p.Gln199del
XM_006717926.2:c.1143_1145del	XP_006717989.1:p.Gln381del
XM_011539982.1:c.1092_1094del	XP_011538284.1:p.Gln364del
XR_945791.1:n.1758_1760del
NM_000314.7:c.1188_1190del	NP_000305.3:p.Gln396del
NM_001304717.5:c.1707_1709del	NP_001291646.4:p.Gln569del
NM_001304718.2:c.597_599del	NP_001291647.1:p.Gln199del
NM_000314.8:c.1188_1190del MANE Select	NP_000305.3:p.Gln396del