Canonical Allele Identifier: CA16619065
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 422884
ClinVar RCV Id: RCV000483214 RCV001018592
dbSNP Id: rs1064796067
MyVariant Identifiers: chr10:g.89720748_89720752del (hg19) chr10:g.87960991_87960995del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960991_87960995del , CM000672.2:g.87960991_87960995del GRCh38
NC_000010.10:g.89720748_89720752del , CM000672.1:g.89720748_89720752del GRCh37
NC_000010.9:g.89710728_89710732del NCBI36
NG_007466.2:g.102553_102557del , LRG_311:g.102553_102557del

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.992_996del ENSP00000514759.2:p.Ile331LysfsTer10
ENST00000710265.1:c.899_903del ENSP00000518161.1:p.Ile300LysfsTer10
ENST00000472832.3:c.899_903del ENSP00000483066.2:p.Ile300LysfsTer10
ENST00000688158.2:n.1634_1638del
ENST00000688922.2:c.*729_*733del ENSP00000508742.2:n.*729_*733del
ENST00000700021.1:c.854_858del ENSP00000514757.1:p.Ile285LysfsTer10
ENST00000700022.1:c.*238_*242del ENSP00000514758.1:n.*238_*242del
ENST00000700023.1:n.2057_2061del
ENST00000700024.1:n.2291_2295del
ENST00000700025.1:n.1668_1672del
ENST00000700026.1:n.536_540del
ENST00000706954.1:c.899_903del ENSP00000516674.1:p.Ile300LysfsTer10
ENST00000706955.1:c.*934_*938del ENSP00000516675.1:n.*934_*938del
ENST00000686459.1:c.*485_*489del ENSP00000508909.1:n.*485_*489del
ENST00000688158.1:c.*1010_*1014del ENSP00000509254.1:n.*1010_*1014del
ENST00000688308.1:c.899_903del ENSP00000508752.1:p.Ile300LysfsTer10
ENST00000688922.1:c.820_824del
ENST00000693560.1:c.1418_1422del ENSP00000509861.1:p.Ile473LysfsTer10
ENST00000371953.8:c.899_903del MANE Select ENSP00000361021.3:p.Ile300LysfsTer10
ENST00000371953.7:c.899_903del ENSP00000361021.3:p.Ile300LysfsTer10
ENST00000472832.2:c.326_330del ENSP00000483066.1:p.Ile109LysfsTer10
NM_000314.5:c.899_903del NP_000305.3:p.Ile300LysfsTer10
NM_000314.6:c.899_903del NP_000305.3:p.Ile300LysfsTer10
NM_001304717.2:c.1418_1422del NP_001291646.2:p.Ile473LysfsTer10
NM_001304718.1:c.308_312del NP_001291647.1:p.Ile103LysfsTer10
XM_006717926.2:c.854_858del XP_006717989.1:p.Ile285LysfsTer10
XM_011539981.1:c.899_903del XP_011538283.1:p.Ile300LysfsTer10
XM_011539982.1:c.803_807del XP_011538284.1:p.Ile268LysfsTer10
XR_945791.1:n.1469_1473del
NM_000314.7:c.899_903del NP_000305.3:p.Ile300LysfsTer10
NM_001304717.5:c.1418_1422del NP_001291646.4:p.Ile473LysfsTer10
NM_001304718.2:c.308_312del NP_001291647.1:p.Ile103LysfsTer10
NM_000314.8:c.899_903del MANE Select NP_000305.3:p.Ile300LysfsTer10
Search 100 bp 5'
Search 100 bp 3'