Canonical Allele Identifier: CA1926143134
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

dbSNP Id: rs1858339123
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863602dup , CM000672.2:g.87863602dup GRCh38
NC_000010.10:g.89623359dup , CM000672.1:g.89623359dup GRCh37
NC_000010.9:g.89613339dup NCBI36
NG_007466.2:g.5165dup , LRG_311:g.5165dup
NG_033079.1:g.4837dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-852dup (PTEN) ENSP00000516674.1:n.-16-852dup
ENST00000688308.1:c.-17+489dup (PTEN) ENSP00000508752.1:n.-17+489dup
ENST00000692337.1:c.44dup (MLDHR) ENSP00000509326.1:p.Ala16ArgfsTer?
ENST00000693560.1:c.-348dup (PTEN) ENSP00000509861.1:n.-348dup
ENST00000371953.7:c.-868dup (PTEN) ENSP00000361021.3:n.-868dup
ENST00000610634.1:c.-970dup (PTEN) ENSP00000477517.1:n.-970dup
NM_000314.5:c.-867dup (PTEN) NP_000305.3:n.-867dup
NM_000314.6:c.-867dup (PTEN) NP_000305.3:n.-867dup
NM_001304717.2:c.-348dup (PTEN) NP_001291646.2:n.-348dup
NM_001304718.1:c.-1572dup (PTEN) NP_001291647.1:n.-1572dup
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