Canonical Allele Identifier: CA915947288
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 818504
ClinVar RCV Id: RCV001010159
dbSNP Id: rs1589593611
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863290_87863306del , CM000672.2:g.87863290_87863306del GRCh38
NC_000010.10:g.89623047_89623063del , CM000672.1:g.89623047_89623063del GRCh37
NC_000010.9:g.89613027_89613043del NCBI36
NG_007466.2:g.4853_4869del , LRG_311:g.4853_4869del
NG_033079.1:g.5134_5150del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+648_-17+664del (PTEN) ENSP00000516674.1:n.-17+648_-17+664del
ENST00000688308.1:c.-17+177_-17+193del (PTEN) ENSP00000508752.1:n.-17+177_-17+193del
ENST00000445946.5:c.-817_-801del (KLLN) MANE Select ENSP00000392204.2:n.-817_-801del
ENST00000371953.7:c.-1180_-1164del (PTEN) ENSP00000361021.3:n.-1180_-1164del
ENST00000445946.3:c.-817_-801del (KLLN) ENSP00000392204.2:n.-817_-801del
NM_001126049.1:c.-817_-801del (KLLN) NP_001119521.1:n.-817_-801del
NM_001126049.2:c.-817_-801del (KLLN) MANE Select NP_001119521.1:n.-817_-801del
Search 100 bp 5'
Search 100 bp 3'