Canonical Allele Identifier: CA300538
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 189434
ClinVar RCV Id: RCV000169827
dbSNP Id: rs786204886
MyVariant Identifiers: chr10:g.89623091_89623092insT (hg19) chr10:g.87863334_87863335insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863334_87863335insT , CM000672.2:g.87863334_87863335insT GRCh38
NC_000010.10:g.89623091_89623092insT , CM000672.1:g.89623091_89623092insT GRCh37
NC_000010.9:g.89613071_89613072insT NCBI36
NG_007466.2:g.4897_4898insT , LRG_311:g.4897_4898insT
NG_033079.1:g.5103_5104insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+692_-17+693insT (PTEN) ENSP00000516674.1:n.-17+692_-17+693insT
ENST00000688308.1:c.-17+221_-17+222insT (PTEN) ENSP00000508752.1:n.-17+221_-17+222insT
ENST00000445946.5:c.-848_-847insA (KLLN) MANE Select ENSP00000392204.2:n.-848_-847insA
ENST00000371953.7:c.-1136_-1135insT (PTEN) ENSP00000361021.3:n.-1136_-1135insT
ENST00000445946.3:c.-848_-847insA (KLLN) ENSP00000392204.2:n.-848_-847insA
NM_001126049.1:c.-848_-847insA (KLLN) NP_001119521.1:n.-848_-847insA
NM_001126049.2:c.-848_-847insA (KLLN) MANE Select NP_001119521.1:n.-848_-847insA
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