Canonical Allele Identifier: CA327732604
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1250514
ClinVar RCV Id: RCV001652764
dbSNP Id: rs375420492
gnomAD v2: X-25025056-A-AT
gnomAD v3: X-25006939-A-AT
gnomAD v4: X-25006939-A-AT
MyVariant Identifiers: chrX:g.25025057_25025058insT (hg19) chrX:g.25025056_25025057insT (hg19) chrX:g.25006940_25006941insT (hg38) chrX:g.25006939_25006940insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25006950dup , CM000685.2:g.25006950dup GRCh38
NC_000023.10:g.25025067dup , CM000685.1:g.25025067dup GRCh37
NC_000023.9:g.24934988dup NCBI36
NG_008281.1:g.14009dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1448+171dup MANE Select ENSP00000368332.4:n.1448+171dup
ENST00000637993.1:c.61+171dup
ENST00000379044.4:c.1448+171dup ENSP00000368332.4:n.1448+171dup
NM_139058.2:c.1448+171dup NP_620689.1:n.1448+171dup
NM_139058.3:c.1448+171dup MANE Select NP_620689.1:n.1448+171dup
Search 100 bp 5'
Search 100 bp 3'