Canonical Allele Identifier: CA10605871

Gene: ARX

Linked Data

• ClinVar Variation Id: 287784
• ClinVar RCV Id: RCV000272935
• dbSNP Id: rs886043728
• MyVariant Identifiers: chrX:g.25031470_25031498del (hg19) ; chrX:g.25013353_25013381del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013359_25013387del , CM000685.2:g.25013359_25013387del	GRCh38
NC_000023.10:g.25031476_25031504del , CM000685.1:g.25031476_25031504del	GRCh37
NC_000023.9:g.24941397_24941425del	NCBI36
NG_008281.1:g.7568_7596del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.614_642del MANE Select	ENSP00000368332.4:p.Leu205ProfsTer23
ENST00000379044.4:c.614_642del	ENSP00000368332.4:p.Leu205ProfsTer23
NM_139058.2:c.614_642del	NP_620689.1:p.Leu205ProfsTer23
NM_139058.3:c.614_642del MANE Select	NP_620689.1:p.Leu205ProfsTer23