Canonical Allele Identifier: CA213330
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 11186
ClinVar RCV Id: RCV002316190 RCV003323356 RCV003488334
dbSNP Id: rs387906492
MyVariant Identifiers: chrX:g.25031776_25031777insGCCGCCGCCGCCGCCGCCGCC (hg19) chrX:g.25013659_25013660insGCCGCCGCCGCCGCCGCCGCC (hg38)
PubMed: PMID:9307258 PMID:10334471 PMID:11889467 PMID:17490853 PMID:17664401
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013671_25013691dup , CM000685.2:g.25013671_25013691dup GRCh38
NC_000023.10:g.25031788_25031808dup , CM000685.1:g.25031788_25031808dup GRCh37
NC_000023.9:g.24941709_24941729dup NCBI36
NG_008281.1:g.7269_7289dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.315_335dup MANE Select ENSP00000368332.4:p.Ala112_Ala113insAlaAl...
ENST00000379044.4:c.315_335dup ENSP00000368332.4:p.Ala112_Ala113insAlaAl...
NM_139058.2:c.315_335dup NP_620689.1:p.Ala112_Ala113insAlaAlaAlaAl...
NM_139058.3:c.315_335dup MANE Select NP_620689.1:p.Ala112_Ala113insAlaAlaAlaAl...
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