Canonical Allele Identifier: CA1926143140
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863606T= , CM000672.2:g.87863606T= GRCh38
NC_000010.10:g.89623363T= , CM000672.1:g.89623363T= GRCh37
NC_000010.9:g.89613343T= NCBI36
NG_007466.2:g.5169T= , LRG_311:g.5169T=
NG_033079.1:g.4832A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-848T= (PTEN) ENSP00000516674.1:n.-16-848T=
ENST00000688308.1:c.-17+493T= (PTEN) ENSP00000508752.1:n.-17+493T=
ENST00000692337.1:c.48T= (MLDHR) ENSP00000509326.1:p.Ala16=
ENST00000693560.1:c.-344T= (PTEN) ENSP00000509861.1:n.-344T=
ENST00000371953.7:c.-864T= (PTEN) ENSP00000361021.3:n.-864T=
ENST00000610634.1:c.-966T= (PTEN) ENSP00000477517.1:n.-966T=
NM_000314.5:c.-863T= (PTEN) NP_000305.3:n.-863T=
NM_000314.6:c.-863T= (PTEN) NP_000305.3:n.-863T=
NM_001304717.2:c.-344T= (PTEN) NP_001291646.2:n.-344T=
NM_001304718.1:c.-1568T= (PTEN) NP_001291647.1:n.-1568T=
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