Canonical Allele Identifier: CA2580615546
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 2576894
ClinVar RCV Id: RCV003323199
gnomAD v4: 10-87863529-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863529C>A , CM000672.2:g.87863529C>A GRCh38
NC_000010.10:g.89623286C>A , CM000672.1:g.89623286C>A GRCh37
NC_000010.9:g.89613266C>A NCBI36
NG_007466.2:g.5092C>A , LRG_311:g.5092C>A
NG_033079.1:g.4909G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+887C>A (PTEN) ENSP00000516674.1:n.-17+887C>A
ENST00000688308.1:c.-17+416C>A (PTEN) ENSP00000508752.1:n.-17+416C>A
ENST00000693560.1:c.-421C>A (PTEN) ENSP00000509861.1:n.-421C>A
ENST00000445946.5:c.-1042G>T (KLLN) MANE Select ENSP00000392204.2:n.-1042G>T
ENST00000371953.7:c.-941C>A (PTEN) ENSP00000361021.3:n.-941C>A
ENST00000610634.1:c.-1043C>A (PTEN) ENSP00000477517.1:n.-1043C>A
NM_000314.5:c.-940C>A (PTEN) NP_000305.3:n.-940C>A
NM_000314.6:c.-940C>A (PTEN) NP_000305.3:n.-940C>A
NM_001304717.2:c.-421C>A (PTEN) NP_001291646.2:n.-421C>A
NM_001304718.1:c.-1645C>A (PTEN) NP_001291647.1:n.-1645C>A
NM_001126049.2:c.-1042G>T (KLLN) MANE Select NP_001119521.1:n.-1042G>T
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