Canonical Allele Identifier: CA1926143130
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863597G= , CM000672.2:g.87863597G= GRCh38
NC_000010.10:g.89623354G= , CM000672.1:g.89623354G= GRCh37
NC_000010.9:g.89613334G= NCBI36
NG_007466.2:g.5160G= , LRG_311:g.5160G=
NG_033079.1:g.4841C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-857G= (PTEN) ENSP00000516674.1:n.-16-857G=
ENST00000688308.1:c.-17+484G= (PTEN) ENSP00000508752.1:n.-17+484G=
ENST00000692337.1:c.39G= (MLDHR) ENSP00000509326.1:p.Ala13=
ENST00000693560.1:c.-353G= (PTEN) ENSP00000509861.1:n.-353G=
ENST00000371953.7:c.-873G= (PTEN) ENSP00000361021.3:n.-873G=
ENST00000610634.1:c.-975G= (PTEN) ENSP00000477517.1:n.-975G=
NM_000314.5:c.-872G= (PTEN) NP_000305.3:n.-872G=
NM_000314.6:c.-872G= (PTEN) NP_000305.3:n.-872G=
NM_001304717.2:c.-353G= (PTEN) NP_001291646.2:n.-353G=
NM_001304718.1:c.-1577G= (PTEN) NP_001291647.1:n.-1577G=
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