Canonical Allele Identifier: CA10373899

Gene: ARX

Linked Data

• ClinVar Variation Id: 1179761
• ClinVar RCV Id: RCV001536811 ; RCV002071929
• dbSNP Id: rs750585274
• ExAC: X:25031656 GGCCGCGGCCGCGGCT / G
• gnomAD v2: X-25031656-GGCCGCGGCCGCGGCT-G
• gnomAD v3: X-25013539-GGCCGCGGCCGCGGCT-G
• gnomAD v4: X-25013539-GGCCGCGGCCGCGGCT-G
• MyVariant Identifiers: chrX:g.25031657_25031671del (hg19) ; chrX:g.25013540_25013554del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013548_25013562del , CM000685.2:g.25013548_25013562del	GRCh38
NC_000023.10:g.25031665_25031679del , CM000685.1:g.25031665_25031679del	GRCh37
NC_000023.9:g.24941586_24941600del	NCBI36
NG_008281.1:g.7395_7409del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.441_455del MANE Select	ENSP00000368332.4:p.Ala148_Ala152del
ENST00000379044.4:c.441_455del	ENSP00000368332.4:p.Ala148_Ala152del
NM_139058.2:c.441_455del	NP_620689.1:p.Ala148_Ala152del
NM_139058.3:c.441_455del MANE Select	NP_620689.1:p.Ala148_Ala152del