Canonical Allele Identifier: CA10577657
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 234664
ClinVar RCV Id: RCV000216390 RCV001307414
dbSNP Id: rs876661147
gnomAD v3: X-25013324-T-TCGGTGC
gnomAD v4: X-25013324-T-TCGGTGC
MyVariant Identifiers: chrX:g.25031442_25031447dupCGGTGC (hg19) chrX:g.25031441_25031442insCGGTGC (hg19) chrX:g.25013325_25013330dupCGGTGC (hg38) chrX:g.25013324_25013325insCGGTGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013332_25013337dup , CM000685.2:g.25013332_25013337dup GRCh38
NC_000023.10:g.25031449_25031454dup , CM000685.1:g.25031449_25031454dup GRCh37
NC_000023.9:g.24941370_24941375dup NCBI36
NG_008281.1:g.7619_7624dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.665_670dup MANE Select ENSP00000368332.4:p.Thr223_Glu224insGlyTh...
ENST00000379044.4:c.665_670dup ENSP00000368332.4:p.Thr223_Glu224insGlyTh...
NM_139058.2:c.665_670dup NP_620689.1:p.Thr223_Glu224insGlyThr
NM_139058.3:c.665_670dup MANE Select NP_620689.1:p.Thr223_Glu224insGlyThr
Search 100 bp 5'
Search 100 bp 3'