Canonical Allele Identifier: CA10582764
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 237650
ClinVar RCV Id: RCV000234527
dbSNP Id: rs878853942
MyVariant Identifiers: chr10:g.89717732_89717733dupAT (hg19) chr10:g.87957975_87957976dupAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957975_87957976dup , CM000672.2:g.87957975_87957976dup GRCh38
NC_000010.10:g.89717732_89717733dup , CM000672.1:g.89717732_89717733dup GRCh37
NC_000010.9:g.89707712_89707713dup NCBI36
NG_007466.2:g.99537_99538dup , LRG_311:g.99537_99538dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.757_758dup ENSP00000514759.2:p.Lys254SerfsTer3
ENST00000710265.1:c.757_758dup ENSP00000518161.1:p.Lys254SerfsTer3
ENST00000472832.3:c.757_758dup ENSP00000483066.2:p.Lys254SerfsTer3
ENST00000688158.2:n.1492_1493dup
ENST00000688922.2:c.*587_*588dup ENSP00000508742.2:n.*587_*588dup
ENST00000700021.1:c.712_713dup ENSP00000514757.1:p.Lys239SerfsTer3
ENST00000700022.1:c.*96_*97dup ENSP00000514758.1:n.*96_*97dup
ENST00000700023.1:n.1915_1916dup
ENST00000700024.1:n.2149_2150dup
ENST00000700025.1:n.1526_1527dup
ENST00000700026.1:n.394_395dup
ENST00000700029.1:c.591_592dup
ENST00000706954.1:c.757_758dup ENSP00000516674.1:p.Lys254SerfsTer3
ENST00000706955.1:c.*792_*793dup ENSP00000516675.1:n.*792_*793dup
ENST00000686459.1:c.*343_*344dup ENSP00000508909.1:n.*343_*344dup
ENST00000688158.1:c.*868_*869dup ENSP00000509254.1:n.*868_*869dup
ENST00000688308.1:c.757_758dup ENSP00000508752.1:p.Lys254SerfsTer3
ENST00000688922.1:c.678_679dup
ENST00000693560.1:c.1276_1277dup ENSP00000509861.1:p.Lys427SerfsTer3
ENST00000371953.8:c.757_758dup MANE Select ENSP00000361021.3:p.Lys254SerfsTer3
ENST00000371953.7:c.757_758dup ENSP00000361021.3:p.Lys254SerfsTer3
ENST00000472832.2:c.184_185dup ENSP00000483066.1:p.Lys63SerfsTer3
NM_000314.5:c.757_758dup NP_000305.3:p.Lys254SerfsTer3
NM_000314.6:c.757_758dup NP_000305.3:p.Lys254SerfsTer3
NM_001304717.2:c.1276_1277dup NP_001291646.2:p.Lys427SerfsTer3
NM_001304718.1:c.166_167dup NP_001291647.1:p.Lys57SerfsTer3
XM_006717926.2:c.712_713dup XP_006717989.1:p.Lys239SerfsTer3
XM_011539981.1:c.757_758dup XP_011538283.1:p.Lys254SerfsTer3
XM_011539982.1:c.661_662dup XP_011538284.1:p.Lys222SerfsTer3
XR_945791.1:n.1327_1328dup
NM_000314.7:c.757_758dup NP_000305.3:p.Lys254SerfsTer3
NM_001304717.5:c.1276_1277dup NP_001291646.4:p.Lys427SerfsTer3
NM_001304718.2:c.166_167dup NP_001291647.1:p.Lys57SerfsTer3
NM_000314.8:c.757_758dup MANE Select NP_000305.3:p.Lys254SerfsTer3
Search 100 bp 5'
Search 100 bp 3'