Canonical Allele Identifier: CA000565
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 189451
ClinVar RCV Id: RCV000169844 RCV000540508
dbSNP Id: rs786204903
MyVariant Identifiers: chr10:g.89717733_89717736del (hg19) chr10:g.87957976_87957979del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957976_87957979del , CM000672.2:g.87957976_87957979del GRCh38
NC_000010.10:g.89717733_89717736del , CM000672.1:g.89717733_89717736del GRCh37
NC_000010.9:g.89707713_89707716del NCBI36
NG_007466.2:g.99538_99541del , LRG_311:g.99538_99541del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.758_761del ENSP00000514759.2:p.Ile253LysfsTer2
ENST00000710265.1:c.758_761del ENSP00000518161.1:p.Ile253LysfsTer2
ENST00000472832.3:c.758_761del ENSP00000483066.2:p.Ile253LysfsTer2
ENST00000688158.2:n.1493_1496del
ENST00000688922.2:c.*588_*591del ENSP00000508742.2:n.*588_*591del
ENST00000700021.1:c.713_716del ENSP00000514757.1:p.Ile238LysfsTer2
ENST00000700022.1:c.*97_*100del ENSP00000514758.1:n.*97_*100del
ENST00000700023.1:n.1916_1919del
ENST00000700024.1:n.2150_2153del
ENST00000700025.1:n.1527_1530del
ENST00000700026.1:n.395_398del
ENST00000700029.1:c.592_595del
ENST00000706954.1:c.758_761del ENSP00000516674.1:p.Ile253LysfsTer2
ENST00000706955.1:c.*793_*796del ENSP00000516675.1:n.*793_*796del
ENST00000686459.1:c.*344_*347del ENSP00000508909.1:n.*344_*347del
ENST00000688158.1:c.*869_*872del ENSP00000509254.1:n.*869_*872del
ENST00000688308.1:c.758_761del ENSP00000508752.1:p.Ile253LysfsTer2
ENST00000688922.1:c.679_682del
ENST00000693560.1:c.1277_1280del ENSP00000509861.1:p.Ile426LysfsTer2
ENST00000371953.8:c.758_761del MANE Select ENSP00000361021.3:p.Ile253LysfsTer2
ENST00000371953.7:c.758_761del ENSP00000361021.3:p.Ile253LysfsTer2
ENST00000472832.2:c.185_188del ENSP00000483066.1:p.Ile62LysfsTer2
NM_000314.5:c.758_761del NP_000305.3:p.Ile253LysfsTer2
NM_000314.6:c.758_761del NP_000305.3:p.Ile253LysfsTer2
NM_001304717.2:c.1277_1280del NP_001291646.2:p.Ile426LysfsTer2
NM_001304718.1:c.167_170del NP_001291647.1:p.Ile56LysfsTer2
XM_006717926.2:c.713_716del XP_006717989.1:p.Ile238LysfsTer2
XM_011539981.1:c.758_761del XP_011538283.1:p.Ile253LysfsTer2
XM_011539982.1:c.662_665del XP_011538284.1:p.Ile221LysfsTer2
XR_945791.1:n.1328_1331del
NM_000314.7:c.758_761del NP_000305.3:p.Ile253LysfsTer2
NM_001304717.5:c.1277_1280del NP_001291646.4:p.Ile426LysfsTer2
NM_001304718.2:c.167_170del NP_001291647.1:p.Ile56LysfsTer2
NM_000314.8:c.758_761del MANE Select NP_000305.3:p.Ile253LysfsTer2
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