Canonical Allele Identifier: CA1926143074
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1858334141
gnomAD v4: 10-87863532-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863532A>C , CM000672.2:g.87863532A>C GRCh38
NC_000010.10:g.89623289A>C , CM000672.1:g.89623289A>C GRCh37
NC_000010.9:g.89613269A>C NCBI36
NG_007466.2:g.5095A>C , LRG_311:g.5095A>C
NG_033079.1:g.4906T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+890A>C (PTEN) ENSP00000516674.1:n.-17+890A>C
ENST00000688308.1:c.-17+419A>C (PTEN) ENSP00000508752.1:n.-17+419A>C
ENST00000693560.1:c.-418A>C (PTEN) ENSP00000509861.1:n.-418A>C
ENST00000445946.5:c.-1045T>G (KLLN) MANE Select ENSP00000392204.2:n.-1045T>G
ENST00000371953.7:c.-938A>C (PTEN) ENSP00000361021.3:n.-938A>C
ENST00000610634.1:c.-1040A>C (PTEN) ENSP00000477517.1:n.-1040A>C
NM_000314.5:c.-937A>C (PTEN) NP_000305.3:n.-937A>C
NM_000314.6:c.-937A>C (PTEN) NP_000305.3:n.-937A>C
NM_001304717.2:c.-418A>C (PTEN) NP_001291646.2:n.-418A>C
NM_001304718.1:c.-1642A>C (PTEN) NP_001291647.1:n.-1642A>C
NM_001126049.2:c.-1045T>G (KLLN) MANE Select NP_001119521.1:n.-1045T>G
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