Canonical Allele Identifier: CA171154

Gene: ARX

Linked Data

• ClinVar Variation Id: 157755
• ClinVar RCV Id: RCV003422032
• dbSNP Id: rs387906492
• gnomAD v2: X-25031776-T-TGCC
• gnomAD v3: X-25013659-T-TGCC
• gnomAD v4: X-25013659-T-TGCC
• MyVariant Identifiers: chrX:g.25031777_25031779dup (hg19) ; chrX:g.25031777_25031779dupGCC (hg19) ; chrX:g.25031785_25031786insGCC (hg19) ; chrX:g.25031776_25031777insGCC (hg19) ; chrX:g.25013660_25013662dupGCC (hg38) ; chrX:g.25013668_25013669insGCC (hg38) ; chrX:g.25013659_25013660insGCC (hg38)
• PubMed: PMID:1605226 ; PMID:3177452 ; PMID:10398246 ; PMID:11971879 ; PMID:12379852 ; PMID:14722918 ; PMID:15199382 ; PMID:17668384 ; PMID:19439424 ; PMID:20506206 ; PMID:22252899 ; PMID:23246292 ; PMID:25044608 ; PMID:27781032 ; PMID:28150386

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013689_25013691dup , CM000685.2:g.25013689_25013691dup	GRCh38
NC_000023.10:g.25031806_25031808dup , CM000685.1:g.25031806_25031808dup	GRCh37
NC_000023.9:g.24941727_24941729dup	NCBI36
NG_008281.1:g.7287_7289dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.333_335dup MANE Select	ENSP00000368332.4:p.Ala112_Ala113insAla
ENST00000379044.4:c.333_335dup	ENSP00000368332.4:p.Ala112_Ala113insAla
NM_139058.2:c.333_335dup	NP_620689.1:p.Ala112_Ala113insAla
NM_139058.3:c.333_335dup MANE Select	NP_620689.1:p.Ala112_Ala113insAla