Canonical Allele Identifier: CA211451804
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs998801422
gnomAD v2: 10-89622779-A-AG
gnomAD v3: 10-87863022-A-AG
gnomAD v4: 10-87863022-A-AG
MyVariant Identifiers: chr10:g.89622779_89622780insG (hg19) chr10:g.87863022_87863023insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863028dup , CM000672.2:g.87863028dup GRCh38
NC_000010.10:g.89622785dup , CM000672.1:g.89622785dup GRCh37
NC_000010.9:g.89612765dup NCBI36
NG_007466.2:g.4591dup , LRG_311:g.4591dup
NG_033079.1:g.5415dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+386dup (PTEN) ENSP00000516674.1:n.-17+386dup
ENST00000688308.1:c.-102dup (PTEN) ENSP00000508752.1:n.-102dup
ENST00000445946.5:c.-536dup (KLLN) MANE Select ENSP00000392204.2:n.-536dup
ENST00000445946.3:c.-536dup (KLLN) ENSP00000392204.2:n.-536dup
NM_001126049.1:c.-536dup (KLLN) NP_001119521.1:n.-536dup
NM_001126049.2:c.-536dup (KLLN) MANE Select NP_001119521.1:n.-536dup
Search 100 bp 5'
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