Canonical Allele Identifier: CA641364630

Gene: ARX

Linked Data

• ClinVar Variation Id: 954428
• ClinVar RCV Id: RCV001226880 ; RCV002563104
• dbSNP Id: rs1473310605
• gnomAD v2: X-25031345-GCGTCGTCCTCCAGCAGCTCCTCCT-G
• gnomAD v3: X-25013228-GCGTCGTCCTCCAGCAGCTCCTCCT-G
• gnomAD v4: X-25013228-GCGTCGTCCTCCAGCAGCTCCTCCT-G
• MyVariant Identifiers: chrX:g.25031346_25031369del (hg19) ; chrX:g.25013229_25013252del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013245_25013268del , CM000685.2:g.25013245_25013268del	GRCh38
NC_000023.10:g.25031362_25031385del , CM000685.1:g.25031362_25031385del	GRCh37
NC_000023.9:g.24941283_24941306del	NCBI36
NG_008281.1:g.7697_7720del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.743_766del MANE Select	ENSP00000368332.4:p.Glu248_Asp255del
ENST00000379044.4:c.743_766del	ENSP00000368332.4:p.Glu248_Asp255del
NM_139058.2:c.743_766del	NP_620689.1:p.Glu248_Asp255del
NM_139058.3:c.743_766del MANE Select	NP_620689.1:p.Glu248_Asp255del