Canonical Allele Identifier: CA2558502080
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

gnomAD v4: 10-87863603-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863603C>A , CM000672.2:g.87863603C>A GRCh38
NC_000010.10:g.89623360C>A , CM000672.1:g.89623360C>A GRCh37
NC_000010.9:g.89613340C>A NCBI36
NG_007466.2:g.5166C>A , LRG_311:g.5166C>A
NG_033079.1:g.4835G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-851C>A (PTEN) ENSP00000516674.1:n.-16-851C>A
ENST00000688308.1:c.-17+490C>A (PTEN) ENSP00000508752.1:n.-17+490C>A
ENST00000692337.1:c.45C>A (MLDHR) ENSP00000509326.1:p.Gly15=
ENST00000693560.1:c.-347C>A (PTEN) ENSP00000509861.1:n.-347C>A
ENST00000371953.7:c.-867C>A (PTEN) ENSP00000361021.3:n.-867C>A
ENST00000610634.1:c.-969C>A (PTEN) ENSP00000477517.1:n.-969C>A
NM_000314.5:c.-866C>A (PTEN) NP_000305.3:n.-866C>A
NM_000314.6:c.-866C>A (PTEN) NP_000305.3:n.-866C>A
NM_001304717.2:c.-347C>A (PTEN) NP_001291646.2:n.-347C>A
NM_001304718.1:c.-1571C>A (PTEN) NP_001291647.1:n.-1571C>A
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