Canonical Allele Identifier: CA198503
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

ClinVar Variation Id: 234632
ClinVar RCV Id: RCV000167519 RCV000217510
dbSNP Id: rs786203981
MyVariant Identifiers: chr10:g.89623086_89623087del (hg19) chr10:g.87863329_87863330del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863329_87863330del , CM000672.2:g.87863329_87863330del GRCh38
NC_000010.10:g.89623086_89623087del , CM000672.1:g.89623086_89623087del GRCh37
NC_000010.9:g.89613066_89613067del NCBI36
NG_007466.2:g.4892_4893del , LRG_311:g.4892_4893del
NG_033079.1:g.5110_5111del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+687_-17+688del (PTEN) ENSP00000516674.1:n.-17+687_-17+688del
ENST00000688308.1:c.-17+216_-17+217del (PTEN) ENSP00000508752.1:n.-17+216_-17+217del
ENST00000445946.5:c.-841_-840del (KLLN) MANE Select ENSP00000392204.2:n.-841_-840del
ENST00000371953.7:c.-1141_-1140del (PTEN) ENSP00000361021.3:n.-1141_-1140del
ENST00000445946.3:c.-841_-840del (KLLN) ENSP00000392204.2:n.-841_-840del
NM_001126049.1:c.-841_-840del (KLLN) NP_001119521.1:n.-841_-840del
NM_001126049.2:c.-841_-840del (KLLN) MANE Select NP_001119521.1:n.-841_-840del
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