Canonical Allele Identifier: CA658797496
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 503731
ClinVar RCV Id: RCV000599102
dbSNP Id: rs587781357
gnomAD v3: 10-87863421-C-CCCCTGCCCTG
gnomAD v4: 10-87863421-C-CCCCTGCCCTG
MyVariant Identifiers: chr10:g.89623188_89623197dup (hg19) chr10:g.89623178_89623179insCCCTGCCCTG (hg19) chr10:g.87863431_87863440dup (hg38) chr10:g.87863421_87863422insCCCTGCCCTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863431_87863440dup , CM000672.2:g.87863431_87863440dup GRCh38
NC_000010.10:g.89623188_89623197dup , CM000672.1:g.89623188_89623197dup GRCh37
NC_000010.9:g.89613168_89613177dup NCBI36
NG_007466.2:g.4994_5003dup , LRG_311:g.4994_5003dup
NG_033079.1:g.5007_5016dup

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+789_-17+798dup (PTEN) ENSP00000516674.1:n.-17+789_-17+798dup
ENST00000688308.1:c.-17+318_-17+327dup (PTEN) ENSP00000508752.1:n.-17+318_-17+327dup
ENST00000445946.5:c.-944_-935dup (KLLN) MANE Select ENSP00000392204.2:n.-944_-935dup
ENST00000371953.7:c.-1039_-1030dup (PTEN) ENSP00000361021.3:n.-1039_-1030dup
NM_001126049.2:c.-944_-935dup (KLLN) MANE Select NP_001119521.1:n.-944_-935dup
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