Canonical Allele Identifier: CA930912130
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

dbSNP Id: rs1858312275
gnomAD v3: 10-87863105-T-A
gnomAD v4: 10-87863105-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863105T>A , CM000672.2:g.87863105T>A GRCh38
NC_000010.10:g.89622862T>A , CM000672.1:g.89622862T>A GRCh37
NC_000010.9:g.89612842T>A NCBI36
NG_007466.2:g.4668T>A , LRG_311:g.4668T>A
NG_033079.1:g.5333A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+463T>A (PTEN) ENSP00000516674.1:n.-17+463T>A
ENST00000688308.1:c.-25T>A (PTEN) ENSP00000508752.1:n.-25T>A
ENST00000445946.5:c.-618A>T (KLLN) MANE Select ENSP00000392204.2:n.-618A>T
ENST00000445946.3:c.-618A>T (KLLN) ENSP00000392204.2:n.-618A>T
NM_001126049.1:c.-618A>T (KLLN) NP_001119521.1:n.-618A>T
NM_001126049.2:c.-618A>T (KLLN) MANE Select NP_001119521.1:n.-618A>T
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