Canonical Allele Identifier: CA2580082303
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1759620
ClinVar RCV Id: RCV002394120
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957976_87957983del , CM000672.2:g.87957976_87957983del GRCh38
NC_000010.10:g.89717733_89717740del , CM000672.1:g.89717733_89717740del GRCh37
NC_000010.9:g.89707713_89707720del NCBI36
NG_007466.2:g.99538_99545del , LRG_311:g.99538_99545del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.758_765del ENSP00000514759.2:p.Ile253ArgfsTer?
ENST00000710265.1:c.758_765del ENSP00000518161.1:p.Ile253ArgfsTer?
ENST00000472832.3:c.758_765del ENSP00000483066.2:p.Ile253ArgfsTer?
ENST00000688158.2:n.1493_1500del
ENST00000688922.2:c.*588_*595del ENSP00000508742.2:n.*588_*595del
ENST00000700021.1:c.713_720del ENSP00000514757.1:p.Ile238ArgfsTer?
ENST00000700022.1:c.*97_*104del ENSP00000514758.1:n.*97_*104del
ENST00000700023.1:n.1916_1923del
ENST00000700024.1:n.2150_2157del
ENST00000700025.1:n.1527_1534del
ENST00000700026.1:n.395_402del
ENST00000700029.1:c.592_599del
ENST00000706954.1:c.758_765del ENSP00000516674.1:p.Ile253ArgfsTer?
ENST00000706955.1:c.*793_*800del ENSP00000516675.1:n.*793_*800del
ENST00000686459.1:c.*344_*351del ENSP00000508909.1:n.*344_*351del
ENST00000688158.1:c.*869_*876del ENSP00000509254.1:n.*869_*876del
ENST00000688308.1:c.758_765del ENSP00000508752.1:p.Ile253ArgfsTer?
ENST00000688922.1:c.679_686del
ENST00000693560.1:c.1277_1284del ENSP00000509861.1:p.Ile426ArgfsTer?
ENST00000371953.8:c.758_765del MANE Select ENSP00000361021.3:p.Ile253ArgfsTer?
ENST00000371953.7:c.758_765del ENSP00000361021.3:p.Ile253ArgfsTer?
ENST00000472832.2:c.185_192del ENSP00000483066.1:p.Ile62ArgfsTer?
NM_000314.5:c.758_765del NP_000305.3:p.Ile253ArgfsTer?
NM_000314.6:c.758_765del NP_000305.3:p.Ile253ArgfsTer?
NM_001304717.2:c.1277_1284del NP_001291646.2:p.Ile426ArgfsTer?
NM_001304718.1:c.167_174del NP_001291647.1:p.Ile56ArgfsTer?
XM_006717926.2:c.713_720del XP_006717989.1:p.Ile238ArgfsTer?
XM_011539981.1:c.758_765del XP_011538283.1:p.Ile253ArgfsTer?
XM_011539982.1:c.662_669del XP_011538284.1:p.Ile221ArgfsTer?
XR_945791.1:n.1328_1335del
NM_000314.7:c.758_765del NP_000305.3:p.Ile253ArgfsTer?
NM_001304717.5:c.1277_1284del NP_001291646.4:p.Ile426ArgfsTer?
NM_001304718.2:c.167_174del NP_001291647.1:p.Ile56ArgfsTer?
NM_000314.8:c.758_765del MANE Select NP_000305.3:p.Ile253ArgfsTer?
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