Canonical Allele Identifier: CA641364595
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 589872
ClinVar RCV Id: RCV000818033 RCV002317581 RCV003489842
dbSNP Id: rs398124508
gnomAD v2: X-25025355-A-AGGCGGCGGC
gnomAD v3: X-25007238-A-AGGCGGCGGC
gnomAD v4: X-25007238-A-AGGCGGCGGC
MyVariant Identifiers: chrX:g.25025356_25025364dup (hg19) chrX:g.25025364_25025365insGGCGGCGGC (hg19) chrX:g.25007239_25007247dup (hg38) chrX:g.25007247_25007248insGGCGGCGGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007251_25007259dup , CM000685.2:g.25007251_25007259dup GRCh38
NC_000023.10:g.25025368_25025376dup , CM000685.1:g.25025368_25025376dup GRCh37
NC_000023.9:g.24935289_24935297dup NCBI36
NG_008281.1:g.13702_13710dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1312_1320dup MANE Select ENSP00000368332.4:p.Ala440_Phe441insAlaAlaAla
ENST00000379044.4:c.1312_1320dup ENSP00000368332.4:p.Ala440_Phe441insAlaAlaAla
NM_139058.2:c.1312_1320dup NP_620689.1:p.Ala440_Phe441insAlaAlaAla
NM_139058.3:c.1312_1320dup MANE Select NP_620689.1:p.Ala440_Phe441insAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'