Canonical Allele Identifier: CA1926143052
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1858332355
gnomAD v4: 10-87863507-G-GCCCGGGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863513_87863520dup , CM000672.2:g.87863513_87863520dup GRCh38
NC_000010.10:g.89623270_89623277dup , CM000672.1:g.89623270_89623277dup GRCh37
NC_000010.9:g.89613250_89613257dup NCBI36
NG_007466.2:g.5076_5083dup , LRG_311:g.5076_5083dup
NG_033079.1:g.4923_4930dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+871_-17+878dup (PTEN) ENSP00000516674.1:n.-17+871_-17+878dup
ENST00000688308.1:c.-17+400_-17+407dup (PTEN) ENSP00000508752.1:n.-17+400_-17+407dup
ENST00000693560.1:c.-437_-430dup (PTEN) ENSP00000509861.1:n.-437_-430dup
ENST00000445946.5:c.-1028_-1021dup (KLLN) MANE Select ENSP00000392204.2:n.-1028_-1021dup
ENST00000371953.7:c.-957_-950dup (PTEN) ENSP00000361021.3:n.-957_-950dup
ENST00000610634.1:c.-1059_-1052dup (PTEN) ENSP00000477517.1:n.-1059_-1052dup
NM_000314.5:c.-956_-949dup (PTEN) NP_000305.3:n.-956_-949dup
NM_000314.6:c.-956_-949dup (PTEN) NP_000305.3:n.-956_-949dup
NM_001304717.2:c.-437_-430dup (PTEN) NP_001291646.2:n.-437_-430dup
NM_001304718.1:c.-1661_-1654dup (PTEN) NP_001291647.1:n.-1661_-1654dup
NM_001126049.2:c.-1028_-1021dup (KLLN) MANE Select NP_001119521.1:n.-1028_-1021dup
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