Canonical Allele Identifier: CA641006828

Gene: ARX

Linked Data

• dbSNP Id: rs1487824216
• gnomAD v2: X-25031947-G-GCCGGCCGGGGAGTC
• gnomAD v3: X-25013830-G-GCCGGCCGGGGAGTC
• gnomAD v4: X-25013830-G-GCCGGCCGGGGAGTC
• MyVariant Identifiers: chrX:g.25031947_25031948insCCGGCCGGGGAGTC (hg19) ; chrX:g.25013830_25013831insCCGGCCGGGGAGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013833_25013846dup , CM000685.2:g.25013833_25013846dup	GRCh38
NC_000023.10:g.25031950_25031963dup , CM000685.1:g.25031950_25031963dup	GRCh37
NC_000023.9:g.24941871_24941884dup	NCBI36
NG_008281.1:g.7105_7118dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.197-46_197-33dup MANE Select	ENSP00000368332.4:n.197-46_197-33dup
ENST00000379044.4:c.197-46_197-33dup	ENSP00000368332.4:n.197-46_197-33dup
NM_139058.2:c.197-46_197-33dup	NP_620689.1:n.197-46_197-33dup
NM_139058.3:c.197-46_197-33dup MANE Select	NP_620689.1:n.197-46_197-33dup