Canonical Allele Identifier: CA930912116
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1858310573
gnomAD v3: 10-87863047-G-T
gnomAD v4: 10-87863047-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863047G>T , CM000672.2:g.87863047G>T GRCh38
NC_000010.10:g.89622804G>T , CM000672.1:g.89622804G>T GRCh37
NC_000010.9:g.89612784G>T NCBI36
NG_007466.2:g.4610G>T , LRG_311:g.4610G>T
NG_033079.1:g.5391C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+405G>T (PTEN) ENSP00000516674.1:n.-17+405G>T
ENST00000688308.1:c.-83G>T (PTEN) ENSP00000508752.1:n.-83G>T
ENST00000445946.5:c.-560C>A (KLLN) MANE Select ENSP00000392204.2:n.-560C>A
ENST00000445946.3:c.-560C>A (KLLN) ENSP00000392204.2:n.-560C>A
NM_001126049.1:c.-560C>A (KLLN) NP_001119521.1:n.-560C>A
NM_001126049.2:c.-560C>A (KLLN) MANE Select NP_001119521.1:n.-560C>A
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