Canonical Allele Identifier: CA658797501
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 503732
ClinVar RCV Id: RCV000599573
dbSNP Id: rs1554889937
MyVariant Identifiers: chr10:g.89623325_89623343dup (hg19) chr10:g.87863568_87863586dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863568_87863586dup , CM000672.2:g.87863568_87863586dup GRCh38
NC_000010.10:g.89623325_89623343dup , CM000672.1:g.89623325_89623343dup GRCh37
NC_000010.9:g.89613305_89613323dup NCBI36
NG_007466.2:g.5131_5149dup , LRG_311:g.5131_5149dup
NG_033079.1:g.4856_4874dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-886_-16-868dup (PTEN) ENSP00000516674.1:n.-16-886_-16-868dup
ENST00000688308.1:c.-17+455_-17+473dup (PTEN) ENSP00000508752.1:n.-17+455_-17+473dup
ENST00000692337.1:c.10_28dup (MLDHR) ENSP00000509326.1:p.Ala10GlyfsTer?
ENST00000693560.1:c.-382_-364dup (PTEN) ENSP00000509861.1:n.-382_-364dup
ENST00000371953.7:c.-902_-884dup (PTEN) ENSP00000361021.3:n.-902_-884dup
ENST00000610634.1:c.-1004_-986dup (PTEN) ENSP00000477517.1:n.-1004_-986dup
NM_000314.5:c.-901_-883dup (PTEN) NP_000305.3:n.-901_-883dup
NM_000314.6:c.-901_-883dup (PTEN) NP_000305.3:n.-901_-883dup
NM_001304717.2:c.-382_-364dup (PTEN) NP_001291646.2:n.-382_-364dup
NM_001304718.1:c.-1606_-1588dup (PTEN) NP_001291647.1:n.-1606_-1588dup
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