Canonical Allele Identifier: CA645369488
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 428221
ClinVar RCV Id: RCV000491818
dbSNP Id: rs1114167646
MyVariant Identifiers: chr10:g.89717766_89717767dup (hg19) chr10:g.87958009_87958010dup (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958009_87958010dup , CM000672.2:g.87958009_87958010dup GRCh38
NC_000010.10:g.89717766_89717767dup , CM000672.1:g.89717766_89717767dup GRCh37
NC_000010.9:g.89707746_89707747dup NCBI36
NG_007466.2:g.99571_99572dup , LRG_311:g.99571_99572dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.791_792dup ENSP00000514759.2:p.Leu265CysfsTer2
ENST00000710265.1:c.791_792dup ENSP00000518161.1:p.Leu265CysfsTer2
ENST00000472832.3:c.791_792dup ENSP00000483066.2:p.Leu265CysfsTer2
ENST00000688158.2:n.1526_1527dup
ENST00000688922.2:c.*621_*622dup ENSP00000508742.2:n.*621_*622dup
ENST00000700021.1:c.746_747dup ENSP00000514757.1:p.Leu250CysfsTer2
ENST00000700022.1:c.*130_*131dup ENSP00000514758.1:n.*130_*131dup
ENST00000700023.1:n.1949_1950dup
ENST00000700024.1:n.2183_2184dup
ENST00000700025.1:n.1560_1561dup
ENST00000700026.1:n.428_429dup
ENST00000700029.1:c.625_626dup
ENST00000706954.1:c.791_792dup ENSP00000516674.1:p.Leu265CysfsTer2
ENST00000706955.1:c.*826_*827dup ENSP00000516675.1:n.*826_*827dup
ENST00000686459.1:c.*377_*378dup ENSP00000508909.1:n.*377_*378dup
ENST00000688158.1:c.*902_*903dup ENSP00000509254.1:n.*902_*903dup
ENST00000688308.1:c.791_792dup ENSP00000508752.1:p.Leu265CysfsTer2
ENST00000688922.1:c.712_713dup
ENST00000693560.1:c.1310_1311dup ENSP00000509861.1:p.Leu438CysfsTer2
ENST00000371953.8:c.791_792dup MANE Select ENSP00000361021.3:p.Leu265CysfsTer2
ENST00000371953.7:c.791_792dup ENSP00000361021.3:p.Leu265CysfsTer2
ENST00000472832.2:c.218_219dup ENSP00000483066.1:p.Leu74CysfsTer2
NM_000314.5:c.791_792dup NP_000305.3:p.Leu265CysfsTer2
NM_000314.6:c.791_792dup NP_000305.3:p.Leu265CysfsTer2
NM_001304717.2:c.1310_1311dup NP_001291646.2:p.Leu438CysfsTer2
NM_001304718.1:c.200_201dup NP_001291647.1:p.Leu68CysfsTer2
XM_006717926.2:c.746_747dup XP_006717989.1:p.Leu250CysfsTer2
XM_011539981.1:c.791_792dup XP_011538283.1:p.Leu265CysfsTer2
XM_011539982.1:c.695_696dup XP_011538284.1:p.Leu233CysfsTer2
XR_945791.1:n.1361_1362dup
NM_000314.7:c.791_792dup NP_000305.3:p.Leu265CysfsTer2
NM_001304717.5:c.1310_1311dup NP_001291646.4:p.Leu438CysfsTer2
NM_001304718.2:c.200_201dup NP_001291647.1:p.Leu68CysfsTer2
NM_000314.8:c.791_792dup MANE Select NP_000305.3:p.Leu265CysfsTer2
Search 100 bp 5'
Search 100 bp 3'