Canonical Allele Identifier: CA874146448

Gene: ARX

Linked Data

• dbSNP Id: rs1353151910
• gnomAD v3: X-25012872-G-GC
• gnomAD v4: X-25012872-G-GC
• MyVariant Identifiers: chrX:g.25030989_25030990insC (hg19) ; chrX:g.25012872_25012873insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25012875dup , CM000685.2:g.25012875dup	GRCh38
NC_000023.10:g.25030992dup , CM000685.1:g.25030992dup	GRCh37
NC_000023.9:g.24940913dup	NCBI36
NG_008281.1:g.8076dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1073+49dup MANE Select	ENSP00000368332.4:n.1073+49dup
ENST00000379044.4:c.1073+49dup	ENSP00000368332.4:n.1073+49dup
NM_139058.2:c.1073+49dup	NP_620689.1:n.1073+49dup
NM_139058.3:c.1073+49dup MANE Select	NP_620689.1:n.1073+49dup