Canonical Allele Identifier: CA658797497
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 503730
ClinVar RCV Id: RCV000598727
dbSNP Id: rs1342028958
gnomAD v3: 10-87863436-G-GCCCTC
gnomAD v4: 10-87863436-G-GCCCTC
MyVariant Identifiers: chr10:g.89623199_89623203dup (hg19) chr10:g.89623193_89623194insCCCTC (hg19) chr10:g.87863442_87863446dup (hg38) chr10:g.87863436_87863437insCCCTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863442_87863446dup , CM000672.2:g.87863442_87863446dup GRCh38
NC_000010.10:g.89623199_89623203dup , CM000672.1:g.89623199_89623203dup GRCh37
NC_000010.9:g.89613179_89613183dup NCBI36
NG_007466.2:g.5005_5009dup , LRG_311:g.5005_5009dup
NG_033079.1:g.4997_5001dup

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+800_-17+804dup (PTEN) ENSP00000516674.1:n.-17+800_-17+804dup
ENST00000688308.1:c.-17+329_-17+333dup (PTEN) ENSP00000508752.1:n.-17+329_-17+333dup
ENST00000445946.5:c.-954_-950dup (KLLN) MANE Select ENSP00000392204.2:n.-954_-950dup
ENST00000371953.7:c.-1028_-1024dup (PTEN) ENSP00000361021.3:n.-1028_-1024dup
NM_001126049.2:c.-954_-950dup (KLLN) MANE Select NP_001119521.1:n.-954_-950dup
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