Canonical Allele Identifier: CA213330

Gene: ARX

Linked Data

• ClinVar Variation Id: 11186
• ClinVar RCV Id: RCV000011936 ; RCV000193540 ; RCV000399003 ; RCV000456891 ; 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

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_Ala113insAlaAlaAlaAlaAlaAlaAla
ENST00000379044.4:c.315_335dup	ENSP00000368332.4:p.Ala112_Ala113insAlaAlaAlaAlaAlaAlaAla
NM_139058.2:c.315_335dup	NP_620689.1:p.Ala112_Ala113insAlaAlaAlaAlaAlaAlaAla
NM_139058.3:c.315_335dup MANE Select	NP_620689.1:p.Ala112_Ala113insAlaAlaAlaAlaAlaAlaAla