Canonical Allele Identifier: CA1926142990
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1342028958
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863442_87863446del , CM000672.2:g.87863442_87863446del GRCh38
NC_000010.10:g.89623199_89623203del , CM000672.1:g.89623199_89623203del GRCh37
NC_000010.9:g.89613179_89613183del NCBI36
NG_007466.2:g.5005_5009del , LRG_311:g.5005_5009del
NG_033079.1:g.4997_5001del

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+800_-17+804del (PTEN) ENSP00000516674.1:n.-17+800_-17+804del
ENST00000688308.1:c.-17+329_-17+333del (PTEN) ENSP00000508752.1:n.-17+329_-17+333del
ENST00000445946.5:c.-954_-950del (KLLN) MANE Select ENSP00000392204.2:n.-954_-950del
ENST00000371953.7:c.-1028_-1024del (PTEN) ENSP00000361021.3:n.-1028_-1024del
NM_001126049.2:c.-954_-950del (KLLN) MANE Select NP_001119521.1:n.-954_-950del
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