Canonical Allele Identifier: CA515947029
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 516395
ClinVar RCV Id: RCV001316569 RCV001311829 RCV002528724
dbSNP Id: rs398124508
gnomAD v2: X-25025355-A-AGGCGGC
gnomAD v3: X-25007238-A-AGGCGGC
gnomAD v4: X-25007238-A-AGGCGGC
MyVariant Identifiers: chrX:g.25025356_25025361dup (hg19) chrX:g.25025364_25025365insGGCGGC (hg19) chrX:g.25025358_25025359insGGCGGC (hg19) chrX:g.25025355_25025356insGGCGGC (hg19) chrX:g.25007239_25007244dup (hg38) chrX:g.25007247_25007248insGGCGGC (hg38) chrX:g.25007238_25007239insGGCGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007254_25007259dup , CM000685.2:g.25007254_25007259dup GRCh38
NC_000023.10:g.25025371_25025376dup , CM000685.1:g.25025371_25025376dup GRCh37
NC_000023.9:g.24935292_24935297dup NCBI36
NG_008281.1:g.13705_13710dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1315_1320dup MANE Select ENSP00000368332.4:p.Ala440_Phe441insAlaAla
ENST00000379044.4:c.1315_1320dup ENSP00000368332.4:p.Ala440_Phe441insAlaAla
NM_139058.2:c.1315_1320dup NP_620689.1:p.Ala440_Phe441insAlaAla
NM_139058.3:c.1315_1320dup MANE Select NP_620689.1:p.Ala440_Phe441insAlaAla
Search 100 bp 5'
Search 100 bp 3'