Canonical Allele Identifier: CA1926142913
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1858323360
gnomAD v4: 10-87863350-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863350G>A , CM000672.2:g.87863350G>A GRCh38
NC_000010.10:g.89623107G>A , CM000672.1:g.89623107G>A GRCh37
NC_000010.9:g.89613087G>A NCBI36
NG_007466.2:g.4913G>A , LRG_311:g.4913G>A
NG_033079.1:g.5088C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706954.1:c.-17+708G>A (PTEN) ENSP00000516674.1:n.-17+708G>A
ENST00000688308.1:c.-17+237G>A (PTEN) ENSP00000508752.1:n.-17+237G>A
ENST00000445946.5:c.-863C>T (KLLN) MANE Select ENSP00000392204.2:n.-863C>T
ENST00000371953.7:c.-1120G>A (PTEN) ENSP00000361021.3:n.-1120G>A
ENST00000445946.3:c.-863C>T (KLLN) ENSP00000392204.2:n.-863C>T
NM_001126049.1:c.-863C>T (KLLN) NP_001119521.1:n.-863C>T
NM_001126049.2:c.-863C>T (KLLN) MANE Select NP_001119521.1:n.-863C>T
Search 100 bp 5'
Search 100 bp 3'