Canonical Allele Identifier: CA169939
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 142982
ClinVar RCV Id: RCV000132491
dbSNP Id: rs587782867
MyVariant Identifiers: chr10:g.89623039_89623041del (hg19) chr10:g.87863282_87863284del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863282_87863284del , CM000672.2:g.87863282_87863284del GRCh38
NC_000010.10:g.89623039_89623041del , CM000672.1:g.89623039_89623041del GRCh37
NC_000010.9:g.89613019_89613021del NCBI36
NG_007466.2:g.4845_4847del , LRG_311:g.4845_4847del
NG_033079.1:g.5157_5159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+640_-17+642del (PTEN) ENSP00000516674.1:n.-17+640_-17+642del
ENST00000688308.1:c.-17+169_-17+171del (PTEN) ENSP00000508752.1:n.-17+169_-17+171del
ENST00000445946.5:c.-794_-792del (KLLN) MANE Select ENSP00000392204.2:n.-794_-792del
ENST00000371953.7:c.-1188_-1186del (PTEN) ENSP00000361021.3:n.-1188_-1186del
ENST00000445946.3:c.-794_-792del (KLLN) ENSP00000392204.2:n.-794_-792del
NM_001126049.1:c.-794_-792del (KLLN) NP_001119521.1:n.-794_-792del
NM_001126049.2:c.-794_-792del (KLLN) MANE Select NP_001119521.1:n.-794_-792del
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