Canonical Allele Identifier: CA1926143137
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863604G= , CM000672.2:g.87863604G= GRCh38
NC_000010.10:g.89623361G= , CM000672.1:g.89623361G= GRCh37
NC_000010.9:g.89613341G= NCBI36
NG_007466.2:g.5167G= , LRG_311:g.5167G=
NG_033079.1:g.4834C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-850G= (PTEN) ENSP00000516674.1:n.-16-850G=
ENST00000688308.1:c.-17+491G= (PTEN) ENSP00000508752.1:n.-17+491G=
ENST00000692337.1:c.46G= (MLDHR) ENSP00000509326.1:p.Ala16=
ENST00000693560.1:c.-346G= (PTEN) ENSP00000509861.1:n.-346G=
ENST00000371953.7:c.-866G= (PTEN) ENSP00000361021.3:n.-866G=
ENST00000610634.1:c.-968G= (PTEN) ENSP00000477517.1:n.-968G=
NM_000314.5:c.-865G= (PTEN) NP_000305.3:n.-865G=
NM_000314.6:c.-865G= (PTEN) NP_000305.3:n.-865G=
NM_001304717.2:c.-346G= (PTEN) NP_001291646.2:n.-346G=
NM_001304718.1:c.-1570G= (PTEN) NP_001291647.1:n.-1570G=
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