Canonical Allele Identifier: CA2580615544
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 1318635
ClinVar RCV Id: RCV001768259
dbSNP Id: rs2132140102
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863484_87863490del , CM000672.2:g.87863484_87863490del GRCh38
NC_000010.10:g.89623241_89623247del , CM000672.1:g.89623241_89623247del GRCh37
NC_000010.9:g.89613221_89613227del NCBI36
NG_007466.2:g.5047_5053del , LRG_311:g.5047_5053del
NG_033079.1:g.4956_4962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+842_-17+848del (PTEN) ENSP00000516674.1:n.-17+842_-17+848del
ENST00000688308.1:c.-17+371_-17+377del (PTEN) ENSP00000508752.1:n.-17+371_-17+377del
ENST00000693560.1:c.-466_-460del (PTEN) ENSP00000509861.1:n.-466_-460del
ENST00000445946.5:c.-995_-989del (KLLN) MANE Select ENSP00000392204.2:n.-995_-989del
ENST00000371953.7:c.-986_-980del (PTEN) ENSP00000361021.3:n.-986_-980del
ENST00000610634.1:c.-1088_-1082del (PTEN) ENSP00000477517.1:n.-1088_-1082del
NM_000314.5:c.-985_-979del (PTEN) NP_000305.3:n.-985_-979del
NM_000314.6:c.-985_-979del (PTEN) NP_000305.3:n.-985_-979del
NM_001304717.2:c.-466_-460del (PTEN) NP_001291646.2:n.-466_-460del
NM_001304718.1:c.-1690_-1684del (PTEN) NP_001291647.1:n.-1690_-1684del
NM_001126049.2:c.-995_-989del (KLLN) MANE Select NP_001119521.1:n.-995_-989del
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