Canonical Allele Identifier: CA213332

Gene: ARX

Linked Data

• ClinVar Variation Id: 210331
• ClinVar RCV Id: RCV000193636
• dbSNP Id: rs1556056131
• MyVariant Identifiers: chrX:g.25031651_25031686dup36 (hg19) ; chrX:g.25031650_25031651insGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT (hg19) ; chrX:g.25013534_25013569dup36 (hg38) ; chrX:g.25013533_25013534insGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013537_25013572dup , CM000685.2:g.25013537_25013572dup	GRCh38
NC_000023.10:g.25031654_25031689dup , CM000685.1:g.25031654_25031689dup	GRCh37
NC_000023.9:g.24941575_24941610dup	NCBI36
NG_008281.1:g.7380_7415dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.426_461dup MANE Select	ENSP00000368332.4:p.Ala154_Ala155insGlyAl...
ENST00000379044.4:c.426_461dup	ENSP00000368332.4:p.Ala154_Ala155insGlyAl...
NM_139058.2:c.426_461dup	NP_620689.1:p.Ala154_Ala155insGlyAlaAlaAl...
NM_139058.3:c.426_461dup MANE Select	NP_620689.1:p.Ala154_Ala155insGlyAlaAlaAl...