Canonical Allele Identifier: CA874147875

Gene: ARX

Linked Data

• dbSNP Id: rs1389460570
• gnomAD v3: X-25013638-C-CGCCGTGGCCGTGGCG
• gnomAD v4: X-25013638-C-CGCCGTGGCCGTGGCG
• MyVariant Identifiers: chrX:g.25031755_25031756insGCCGTGGCCGTGGCG (hg19) ; chrX:g.25013638_25013639insGCCGTGGCCGTGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013643_25013657dup , CM000685.2:g.25013643_25013657dup	GRCh38
NC_000023.10:g.25031760_25031774dup , CM000685.1:g.25031760_25031774dup	GRCh37
NC_000023.9:g.24941681_24941695dup	NCBI36
NG_008281.1:g.7296_7310dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.342_356dup MANE Select	ENSP00000368332.4:p.Ala119_Gly120insAlaTh...
ENST00000379044.4:c.342_356dup	ENSP00000368332.4:p.Ala119_Gly120insAlaTh...
NM_139058.2:c.342_356dup	NP_620689.1:p.Ala119_Gly120insAlaThrAlaTh...
NM_139058.3:c.342_356dup MANE Select	NP_620689.1:p.Ala119_Gly120insAlaThrAlaTh...