Canonical Allele Identifier: CA2580082182
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 1767981
ClinVar RCV Id: RCV002387040
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863498T>G , CM000672.2:g.87863498T>G GRCh38
NC_000010.10:g.89623255T>G , CM000672.1:g.89623255T>G GRCh37
NC_000010.9:g.89613235T>G NCBI36
NG_007466.2:g.5061T>G , LRG_311:g.5061T>G
NG_033079.1:g.4940A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+856T>G (PTEN) ENSP00000516674.1:n.-17+856T>G
ENST00000688308.1:c.-17+385T>G (PTEN) ENSP00000508752.1:n.-17+385T>G
ENST00000693560.1:c.-452T>G (PTEN) ENSP00000509861.1:n.-452T>G
ENST00000445946.5:c.-1011A>C (KLLN) MANE Select ENSP00000392204.2:n.-1011A>C
ENST00000371953.7:c.-972T>G (PTEN) ENSP00000361021.3:n.-972T>G
ENST00000610634.1:c.-1074T>G (PTEN) ENSP00000477517.1:n.-1074T>G
NM_000314.5:c.-971T>G (PTEN) NP_000305.3:n.-971T>G
NM_000314.6:c.-971T>G (PTEN) NP_000305.3:n.-971T>G
NM_001304717.2:c.-452T>G (PTEN) NP_001291646.2:n.-452T>G
NM_001304718.1:c.-1676T>G (PTEN) NP_001291647.1:n.-1676T>G
NM_001126049.2:c.-1011A>C (KLLN) MANE Select NP_001119521.1:n.-1011A>C
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