Canonical Allele Identifier: CA930912579
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 1172888
ClinVar RCV Id: RCV001526998
dbSNP Id: rs1858332063
gnomAD v3: 10-87863505-G-A
gnomAD v4: 10-87863505-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863505G>A , CM000672.2:g.87863505G>A GRCh38
NC_000010.10:g.89623262G>A , CM000672.1:g.89623262G>A GRCh37
NC_000010.9:g.89613242G>A NCBI36
NG_007466.2:g.5068G>A , LRG_311:g.5068G>A
NG_033079.1:g.4933C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+863G>A (PTEN) ENSP00000516674.1:n.-17+863G>A
ENST00000688308.1:c.-17+392G>A (PTEN) ENSP00000508752.1:n.-17+392G>A
ENST00000693560.1:c.-445G>A (PTEN) ENSP00000509861.1:n.-445G>A
ENST00000445946.5:c.-1018C>T (KLLN) MANE Select ENSP00000392204.2:n.-1018C>T
ENST00000371953.7:c.-965G>A (PTEN) ENSP00000361021.3:n.-965G>A
ENST00000610634.1:c.-1067G>A (PTEN) ENSP00000477517.1:n.-1067G>A
NM_000314.5:c.-964G>A (PTEN) NP_000305.3:n.-964G>A
NM_000314.6:c.-964G>A (PTEN) NP_000305.3:n.-964G>A
NM_001304717.2:c.-445G>A (PTEN) NP_001291646.2:n.-445G>A
NM_001304718.1:c.-1669G>A (PTEN) NP_001291647.1:n.-1669G>A
NM_001126049.2:c.-1018C>T (KLLN) MANE Select NP_001119521.1:n.-1018C>T
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