Canonical Allele Identifier: CA2610046198
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863449-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863449C>A , CM000672.2:g.87863449C>A GRCh38
NC_000010.10:g.89623206C>A , CM000672.1:g.89623206C>A GRCh37
NC_000010.9:g.89613186C>A NCBI36
NG_007466.2:g.5012C>A , LRG_311:g.5012C>A
NG_033079.1:g.4989G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+807C>A (PTEN) ENSP00000516674.1:n.-17+807C>A
ENST00000688308.1:c.-17+336C>A (PTEN) ENSP00000508752.1:n.-17+336C>A
ENST00000693560.1:c.-501C>A (PTEN) ENSP00000509861.1:n.-501C>A
ENST00000445946.5:c.-962G>T (KLLN) MANE Select ENSP00000392204.2:n.-962G>T
ENST00000371953.7:c.-1021C>A (PTEN) ENSP00000361021.3:n.-1021C>A
ENST00000610634.1:c.-1123C>A (PTEN) ENSP00000477517.1:n.-1123C>A
NM_000314.5:c.-1020C>A (PTEN) NP_000305.3:n.-1020C>A
NM_000314.6:c.-1020C>A (PTEN) NP_000305.3:n.-1020C>A
NM_001304717.2:c.-501C>A (PTEN) NP_001291646.2:n.-501C>A
NM_001304718.1:c.-1725C>A (PTEN) NP_001291647.1:n.-1725C>A
NM_001126049.2:c.-962G>T (KLLN) MANE Select NP_001119521.1:n.-962G>T
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