Canonical Allele Identifier: CA10373827
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs764534835
ExAC: X:25025581 T / TCGGCG
gnomAD v2: X-25025581-T-TCGGCG
gnomAD v3: X-25007464-T-TCGGCG
gnomAD v4: X-25007464-T-TCGGCG
MyVariant Identifiers: chrX:g.25025581_25025582insCGGCG (hg19) chrX:g.25007464_25007465insCGGCG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007469_25007473dup , CM000685.2:g.25007469_25007473dup GRCh38
NC_000023.10:g.25025586_25025590dup , CM000685.1:g.25025586_25025590dup GRCh37
NC_000023.9:g.24935507_24935511dup NCBI36
NG_008281.1:g.13480_13484dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1120-30_1120-26dup MANE Select ENSP00000368332.4:n.1120-30_1120-26dup
ENST00000379044.4:c.1120-30_1120-26dup ENSP00000368332.4:n.1120-30_1120-26dup
NM_139058.2:c.1120-30_1120-26dup NP_620689.1:n.1120-30_1120-26dup
NM_139058.3:c.1120-30_1120-26dup MANE Select NP_620689.1:n.1120-30_1120-26dup
Search 100 bp 5'
Search 100 bp 3'