Canonical Allele Identifier: CA645554070
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2674350
ClinVar RCV Id: RCV003452546
COSMIC: COSM4892
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958017_87958018del , CM000672.2:g.87958017_87958018del GRCh38
NC_000010.10:g.89717774_89717775del , CM000672.1:g.89717774_89717775del GRCh37
NC_000010.9:g.89707754_89707755del NCBI36
NG_007466.2:g.99579_99580del , LRG_311:g.99579_99580del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.799_800del ENSP00000514759.2:p.Lys267GlyfsTer?
ENST00000710265.1:c.799_800del ENSP00000518161.1:p.Lys267GlyfsTer30
ENST00000472832.3:c.799_800del ENSP00000483066.2:p.Lys267GlyfsTer30
ENST00000688158.2:n.1534_1535del
ENST00000688922.2:c.*629_*630del ENSP00000508742.2:n.*629_*630del
ENST00000700021.1:c.754_755del ENSP00000514757.1:p.Lys252GlyfsTer30
ENST00000700022.1:c.*138_*139del ENSP00000514758.1:n.*138_*139del
ENST00000700023.1:n.1957_1958del
ENST00000700024.1:n.2191_2192del
ENST00000700025.1:n.1568_1569del
ENST00000700026.1:n.436_437del
ENST00000700029.1:c.633_634del
ENST00000706954.1:c.799_800del ENSP00000516674.1:p.Lys267GlyfsTer30
ENST00000706955.1:c.*834_*835del ENSP00000516675.1:n.*834_*835del
ENST00000686459.1:c.*385_*386del ENSP00000508909.1:n.*385_*386del
ENST00000688158.1:c.*910_*911del ENSP00000509254.1:n.*910_*911del
ENST00000688308.1:c.799_800del ENSP00000508752.1:p.Lys267GlyfsTer30
ENST00000688922.1:c.720_721del
ENST00000693560.1:c.1318_1319del ENSP00000509861.1:p.Lys440GlyfsTer30
ENST00000371953.8:c.799_800del MANE Select ENSP00000361021.3:p.Lys267GlyfsTer30
ENST00000371953.7:c.799_800del ENSP00000361021.3:p.Lys267GlyfsTer30
ENST00000472832.2:c.226_227del ENSP00000483066.1:p.Lys76GlyfsTer30
NM_000314.5:c.799_800del NP_000305.3:p.Lys267GlyfsTer30
NM_000314.6:c.799_800del NP_000305.3:p.Lys267GlyfsTer30
NM_001304717.2:c.1318_1319del NP_001291646.2:p.Lys440GlyfsTer30
NM_001304718.1:c.208_209del NP_001291647.1:p.Lys70GlyfsTer30
XM_006717926.2:c.754_755del XP_006717989.1:p.Lys252GlyfsTer30
XM_011539981.1:c.799_800del XP_011538283.1:p.Lys267GlyfsTer30
XM_011539982.1:c.703_704del XP_011538284.1:p.Lys235GlyfsTer30
XR_945791.1:n.1369_1370del
NM_000314.7:c.799_800del NP_000305.3:p.Lys267GlyfsTer30
NM_001304717.5:c.1318_1319del NP_001291646.4:p.Lys440GlyfsTer30
NM_001304718.2:c.208_209del NP_001291647.1:p.Lys70GlyfsTer30
NM_000314.8:c.799_800del MANE Select NP_000305.3:p.Lys267GlyfsTer30
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