Canonical Allele Identifier: CA2580082315
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1760921
ClinVar RCV Id: RCV002412234
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958004_87958005insCT , CM000672.2:g.87958004_87958005insCT GRCh38
NC_000010.10:g.89717761_89717762insCT , CM000672.1:g.89717761_89717762insCT GRCh37
NC_000010.9:g.89707741_89707742insCT NCBI36
NG_007466.2:g.99566_99567insCT , LRG_311:g.99566_99567insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.786_787insCT ENSP00000514759.2:p.Lys263LeufsTer4
ENST00000710265.1:c.786_787insCT ENSP00000518161.1:p.Lys263LeufsTer4
ENST00000472832.3:c.786_787insCT ENSP00000483066.2:p.Lys263LeufsTer4
ENST00000688158.2:n.1521_1522insCT
ENST00000688922.2:c.*616_*617insCT ENSP00000508742.2:n.*616_*617insCT
ENST00000700021.1:c.741_742insCT ENSP00000514757.1:p.Lys248LeufsTer4
ENST00000700022.1:c.*125_*126insCT ENSP00000514758.1:n.*125_*126insCT
ENST00000700023.1:n.1944_1945insCT
ENST00000700024.1:n.2178_2179insCT
ENST00000700025.1:n.1555_1556insCT
ENST00000700026.1:n.423_424insCT
ENST00000700029.1:c.620_621insCT
ENST00000706954.1:c.786_787insCT ENSP00000516674.1:p.Lys263LeufsTer4
ENST00000706955.1:c.*821_*822insCT ENSP00000516675.1:n.*821_*822insCT
ENST00000686459.1:c.*372_*373insCT ENSP00000508909.1:n.*372_*373insCT
ENST00000688158.1:c.*897_*898insCT ENSP00000509254.1:n.*897_*898insCT
ENST00000688308.1:c.786_787insCT ENSP00000508752.1:p.Lys263LeufsTer4
ENST00000688922.1:c.707_708insCT
ENST00000693560.1:c.1305_1306insCT ENSP00000509861.1:p.Lys436LeufsTer4
ENST00000371953.8:c.786_787insCT MANE Select ENSP00000361021.3:p.Lys263LeufsTer4
ENST00000371953.7:c.786_787insCT ENSP00000361021.3:p.Lys263LeufsTer4
ENST00000472832.2:c.213_214insCT ENSP00000483066.1:p.Lys72LeufsTer4
NM_000314.5:c.786_787insCT NP_000305.3:p.Lys263LeufsTer4
NM_000314.6:c.786_787insCT NP_000305.3:p.Lys263LeufsTer4
NM_001304717.2:c.1305_1306insCT NP_001291646.2:p.Lys436LeufsTer4
NM_001304718.1:c.195_196insCT NP_001291647.1:p.Lys66LeufsTer4
XM_006717926.2:c.741_742insCT XP_006717989.1:p.Lys248LeufsTer4
XM_011539981.1:c.786_787insCT XP_011538283.1:p.Lys263LeufsTer4
XM_011539982.1:c.690_691insCT XP_011538284.1:p.Lys231LeufsTer4
XR_945791.1:n.1356_1357insCT
NM_000314.7:c.786_787insCT NP_000305.3:p.Lys263LeufsTer4
NM_001304717.5:c.1305_1306insCT NP_001291646.4:p.Lys436LeufsTer4
NM_001304718.2:c.195_196insCT NP_001291647.1:p.Lys66LeufsTer4
NM_000314.8:c.786_787insCT MANE Select NP_000305.3:p.Lys263LeufsTer4
Search 100 bp 5'
Search 100 bp 3'