Canonical Allele Identifier: CA2610046345
Gene: PTEN HGNC NCBI
KLLN HGNC NCBI

Linked Data

gnomAD v4: 10-87863520-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863520G>T , CM000672.2:g.87863520G>T GRCh38
NC_000010.10:g.89623277G>T , CM000672.1:g.89623277G>T GRCh37
NC_000010.9:g.89613257G>T NCBI36
NG_007466.2:g.5083G>T , LRG_311:g.5083G>T
NG_033079.1:g.4918C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+878G>T (PTEN) ENSP00000516674.1:n.-17+878G>T
ENST00000688308.1:c.-17+407G>T (PTEN) ENSP00000508752.1:n.-17+407G>T
ENST00000693560.1:c.-430G>T (PTEN) ENSP00000509861.1:n.-430G>T
ENST00000445946.5:c.-1033C>A (KLLN) MANE Select ENSP00000392204.2:n.-1033C>A
ENST00000371953.7:c.-950G>T (PTEN) ENSP00000361021.3:n.-950G>T
ENST00000610634.1:c.-1052G>T (PTEN) ENSP00000477517.1:n.-1052G>T
NM_000314.5:c.-949G>T (PTEN) NP_000305.3:n.-949G>T
NM_000314.6:c.-949G>T (PTEN) NP_000305.3:n.-949G>T
NM_001304717.2:c.-430G>T (PTEN) NP_001291646.2:n.-430G>T
NM_001304718.1:c.-1654G>T (PTEN) NP_001291647.1:n.-1654G>T
NM_001126049.2:c.-1033C>A (KLLN) MANE Select NP_001119521.1:n.-1033C>A
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