Canonical Allele Identifier: CA16621354
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 419025
ClinVar RCV Id: RCV000482315
dbSNP Id: rs1556056425
MyVariant Identifiers: chrX:g.25031786_25031809dup24 (hg19) chrX:g.25031785_25031786insGCCGCCGCCGCCGCCGCCGCCGCT (hg19) chrX:g.25013669_25013692dup24 (hg38) chrX:g.25013668_25013669insGCCGCCGCCGCCGCCGCCGCCGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013674_25013697dup , CM000685.2:g.25013674_25013697dup GRCh38
NC_000023.10:g.25031791_25031814dup , CM000685.1:g.25031791_25031814dup GRCh37
NC_000023.9:g.24941712_24941735dup NCBI36
NG_008281.1:g.7257_7280dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.303_326dup MANE Select ENSP00000368332.4:p.Ala109_Ala110insAlaAlaAlaAlaAlaAlaAlaAla
ENST00000379044.4:c.303_326dup ENSP00000368332.4:p.Ala109_Ala110insAlaAlaAlaAlaAlaAlaAlaAla
NM_139058.2:c.303_326dup NP_620689.1:p.Ala109_Ala110insAlaAlaAlaAlaAlaAlaAlaAla
NM_139058.3:c.303_326dup MANE Select NP_620689.1:p.Ala109_Ala110insAlaAlaAlaAlaAlaAlaAlaAla
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