Canonical Allele Identifier: CA2610046144
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863431-GCCCTGCCCTC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863436_87863445del , CM000672.2:g.87863436_87863445del GRCh38
NC_000010.10:g.89623193_89623202del , CM000672.1:g.89623193_89623202del GRCh37
NC_000010.9:g.89613173_89613182del NCBI36
NG_007466.2:g.4999_5008del , LRG_311:g.4999_5008del
NG_033079.1:g.4997_5006del

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+794_-17+803del (PTEN) ENSP00000516674.1:n.-17+794_-17+803del
ENST00000688308.1:c.-17+323_-17+332del (PTEN) ENSP00000508752.1:n.-17+323_-17+332del
ENST00000445946.5:c.-954_-945del (KLLN) MANE Select ENSP00000392204.2:n.-954_-945del
ENST00000371953.7:c.-1034_-1025del (PTEN) ENSP00000361021.3:n.-1034_-1025del
NM_001126049.2:c.-954_-945del (KLLN) MANE Select NP_001119521.1:n.-954_-945del
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