Canonical Allele Identifier: CA1926143121
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863578G= , CM000672.2:g.87863578G= GRCh38
NC_000010.10:g.89623335G= , CM000672.1:g.89623335G= GRCh37
NC_000010.9:g.89613315G= NCBI36
NG_007466.2:g.5141G= , LRG_311:g.5141G=
NG_033079.1:g.4860C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-876G= (PTEN) ENSP00000516674.1:n.-16-876G=
ENST00000688308.1:c.-17+465G= (PTEN) ENSP00000508752.1:n.-17+465G=
ENST00000692337.1:c.20G= (MLDHR) ENSP00000509326.1:p.Cys7=
ENST00000693560.1:c.-372G= (PTEN) ENSP00000509861.1:n.-372G=
ENST00000371953.7:c.-892G= (PTEN) ENSP00000361021.3:n.-892G=
ENST00000610634.1:c.-994G= (PTEN) ENSP00000477517.1:n.-994G=
NM_000314.5:c.-891G= (PTEN) NP_000305.3:n.-891G=
NM_000314.6:c.-891G= (PTEN) NP_000305.3:n.-891G=
NM_001304717.2:c.-372G= (PTEN) NP_001291646.2:n.-372G=
NM_001304718.1:c.-1596G= (PTEN) NP_001291647.1:n.-1596G=
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