Canonical Allele Identifier: CA000639
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 189454
ClinVar RCV Id: RCV000169847
dbSNP Id: rs786204906

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961020_87961021insGTGCA , CM000672.2:g.87961020_87961021insGTGCA GRCh38
NC_000010.10:g.89720777_89720778insGTGCA , CM000672.1:g.89720777_89720778insGTGCA GRCh37
NC_000010.9:g.89710757_89710758insGTGCA NCBI36
NG_007466.2:g.102582_102583insGTGCA , LRG_311:g.102582_102583insGTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1021_1022insGTGCA ENSP00000514759.2:p.Asp341GlyfsTer9
ENST00000710265.1:c.928_929insGTGCA ENSP00000518161.1:p.Asp310GlyfsTer9
ENST00000472832.3:c.928_929insGTGCA ENSP00000483066.2:p.Asp310GlyfsTer9
ENST00000688158.2:n.1663_1664insGTGCA
ENST00000688922.2:c.*758_*759insGTGCA ENSP00000508742.2:n.*758_*759insGTGCA
ENST00000700021.1:c.883_884insGTGCA ENSP00000514757.1:p.Asp295GlyfsTer9
ENST00000700022.1:c.*267_*268insGTGCA ENSP00000514758.1:n.*267_*268insGTGCA
ENST00000700023.1:n.2086_2087insGTGCA
ENST00000700024.1:n.2320_2321insGTGCA
ENST00000700025.1:n.1697_1698insGTGCA
ENST00000700026.1:n.565_566insGTGCA
ENST00000706954.1:c.928_929insGTGCA ENSP00000516674.1:p.Asp310GlyfsTer9
ENST00000706955.1:c.*963_*964insGTGCA ENSP00000516675.1:n.*963_*964insGTGCA
ENST00000686459.1:c.*514_*515insGTGCA ENSP00000508909.1:n.*514_*515insGTGCA
ENST00000688158.1:c.*1039_*1040insGTGCA ENSP00000509254.1:n.*1039_*1040insGTGCA
ENST00000688308.1:c.928_929insGTGCA ENSP00000508752.1:p.Asp310GlyfsTer9
ENST00000688922.1:c.849_850insGTGCA
ENST00000693560.1:c.1447_1448insGTGCA ENSP00000509861.1:p.Asp483GlyfsTer9
ENST00000371953.8:c.928_929insGTGCA MANE Select ENSP00000361021.3:p.Asp310GlyfsTer9
ENST00000371953.7:c.928_929insGTGCA ENSP00000361021.3:p.Asp310GlyfsTer9
ENST00000472832.2:c.355_356insGTGCA ENSP00000483066.1:p.Asp119GlyfsTer9
NM_000314.5:c.928_929insGTGCA NP_000305.3:p.Asp310GlyfsTer9
NM_000314.6:c.928_929insGTGCA NP_000305.3:p.Asp310GlyfsTer9
NM_001304717.2:c.1447_1448insGTGCA NP_001291646.2:p.Asp483GlyfsTer9
NM_001304718.1:c.337_338insGTGCA NP_001291647.1:p.Asp113GlyfsTer9
XM_006717926.2:c.883_884insGTGCA XP_006717989.1:p.Asp295GlyfsTer9
XM_011539981.1:c.928_929insGTGCA XP_011538283.1:p.Asp310GlyfsTer9
XM_011539982.1:c.832_833insGTGCA XP_011538284.1:p.Asp278GlyfsTer9
XR_945791.1:n.1498_1499insGTGCA
NM_000314.7:c.928_929insGTGCA NP_000305.3:p.Asp310GlyfsTer9
NM_001304717.5:c.1447_1448insGTGCA NP_001291646.4:p.Asp483GlyfsTer9
NM_001304718.2:c.337_338insGTGCA NP_001291647.1:p.Asp113GlyfsTer9
NM_000314.8:c.928_929insGTGCA MANE Select NP_000305.3:p.Asp310GlyfsTer9