Canonical Allele Identifier: CA300539
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 189436
ClinVar RCV Id: RCV000169829 RCV001731501 RCV004535157
dbSNP Id: rs786204888
gnomAD v2: 10-89623319-T-TGGCGGGACTCTTTATGCGCTGC
gnomAD v3: 10-87863562-T-TGGCGGGACTCTTTATGCGCTGC
gnomAD v4: 10-87863562-T-TGGCGGGACTCTTTATGCGCTGC
MyVariant Identifiers: chr10:g.89623323_89623344dup22 (hg19) chr10:g.89623319_89623320insGGCGGGACTCTTTATGCGCTGC (hg19) chr10:g.87863566_87863587dup22 (hg38) chr10:g.87863562_87863563insGGCGGGACTCTTTATGCGCTGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863566_87863587dup , CM000672.2:g.87863566_87863587dup GRCh38
NC_000010.10:g.89623323_89623344dup , CM000672.1:g.89623323_89623344dup GRCh37
NC_000010.9:g.89613303_89613324dup NCBI36
NG_007466.2:g.5129_5150dup , LRG_311:g.5129_5150dup
NG_033079.1:g.4854_4875dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-888_-16-867dup (PTEN) ENSP00000516674.1:n.-16-888_-16-867dup
ENST00000688308.1:c.-17+453_-17+474dup (PTEN) ENSP00000508752.1:n.-17+453_-17+474dup
ENST00000692337.1:c.8_29dup (MLDHR) ENSP00000509326.1:p.Tyr12LeufsTer?
ENST00000693560.1:c.-384_-363dup (PTEN) ENSP00000509861.1:n.-384_-363dup
ENST00000371953.7:c.-904_-883dup (PTEN) ENSP00000361021.3:n.-904_-883dup
ENST00000610634.1:c.-1006_-985dup (PTEN) ENSP00000477517.1:n.-1006_-985dup
NM_000314.5:c.-903_-882dup (PTEN) NP_000305.3:n.-903_-882dup
NM_000314.6:c.-903_-882dup (PTEN) NP_000305.3:n.-903_-882dup
NM_001304717.2:c.-384_-363dup (PTEN) NP_001291646.2:n.-384_-363dup
NM_001304718.1:c.-1608_-1587dup (PTEN) NP_001291647.1:n.-1608_-1587dup
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