Canonical Allele Identifier: CA16621352

Gene: ARX

Linked Data

• ClinVar Variation Id: 424509
• ClinVar RCV Id: RCV000484667
• dbSNP Id: rs1556056354
• MyVariant Identifiers: chrX:g.25031767_25031808dup42 (hg19) ; chrX:g.25031766_25031767insGGCGGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (hg19) ; chrX:g.25013650_25013691dup42 (hg38) ; chrX:g.25013649_25013650insGGCGGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013650_25013691dup , CM000685.2:g.25013650_25013691dup	GRCh38
NC_000023.10:g.25031767_25031808dup , CM000685.1:g.25031767_25031808dup	GRCh37
NC_000023.9:g.24941688_24941729dup	NCBI36
NG_008281.1:g.7258_7299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.304_345dup MANE Select	ENSP00000368332.4:p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000379044.4:c.304_345dup	ENSP00000368332.4:p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_139058.2:c.304_345dup	NP_620689.1:p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_139058.3:c.304_345dup MANE Select	NP_620689.1:p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA...