Canonical Allele Identifier: CA1926143133
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863600C= , CM000672.2:g.87863600C= GRCh38
NC_000010.10:g.89623357C= , CM000672.1:g.89623357C= GRCh37
NC_000010.9:g.89613337C= NCBI36
NG_007466.2:g.5163C= , LRG_311:g.5163C=
NG_033079.1:g.4838G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-854C= (PTEN) ENSP00000516674.1:n.-16-854C=
ENST00000688308.1:c.-17+487C= (PTEN) ENSP00000508752.1:n.-17+487C=
ENST00000692337.1:c.42C= (MLDHR) ENSP00000509326.1:p.Leu14=
ENST00000693560.1:c.-350C= (PTEN) ENSP00000509861.1:n.-350C=
ENST00000371953.7:c.-870C= (PTEN) ENSP00000361021.3:n.-870C=
ENST00000610634.1:c.-972C= (PTEN) ENSP00000477517.1:n.-972C=
NM_000314.5:c.-869C= (PTEN) NP_000305.3:n.-869C=
NM_000314.6:c.-869C= (PTEN) NP_000305.3:n.-869C=
NM_001304717.2:c.-350C= (PTEN) NP_001291646.2:n.-350C=
NM_001304718.1:c.-1574C= (PTEN) NP_001291647.1:n.-1574C=
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