Canonical Allele Identifier: CA641006222
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1283032831
gnomAD v2: X-25028284-A-AC
gnomAD v3: X-25010167-A-AC
gnomAD v4: X-25010167-A-AC
MyVariant Identifiers: chrX:g.25028291_25028294delinsCGCAC (hg19) chrX:g.25028284_25028285insC (hg19) chrX:g.25010174_25010177delinsCGCAC (hg38) chrX:g.25010167_25010168insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010173dup , CM000685.2:g.25010173dup GRCh38
NC_000023.10:g.25028290dup , CM000685.1:g.25028290dup GRCh37
NC_000023.9:g.24938211dup NCBI36
NG_008281.1:g.10781dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+92dup MANE Select ENSP00000368332.4:n.1119+92dup
ENST00000379044.4:c.1119+92dup ENSP00000368332.4:n.1119+92dup
NM_139058.2:c.1119+92dup NP_620689.1:n.1119+92dup
NM_139058.3:c.1119+92dup MANE Select NP_620689.1:n.1119+92dup
Search 100 bp 5'
Search 100 bp 3'