Canonical Allele Identifier: CA213339
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 210320
ClinVar RCV Id: RCV000194440
dbSNP Id: rs1556046904
MyVariant Identifiers: chrX:g.25023007_25023109dup (hg19) chrX:g.25023007_25023109dup103 (hg19) chrX:g.25004890_25004992dup (hg38) chrX:g.25004890_25004992dup103 (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004895_25004997dup , CM000685.2:g.25004895_25004997dup GRCh38
NC_000023.10:g.25023012_25023114dup , CM000685.1:g.25023012_25023114dup GRCh37
NC_000023.9:g.24932933_24933035dup NCBI36
NG_008281.1:g.15957_16059dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1449-82_1469dup
ENST00000636885.1:n.37-82_57dup
ENST00000379044.4:c.1449-82_1469dup
NM_139058.2:c.1449-82_1469dup
NM_139058.3:c.1449-82_1469dup
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