Canonical Allele Identifier: CA641006220

Gene: ARX

Linked Data

• dbSNP Id: rs1443880176
• gnomAD v2: X-25028278-G-GA
• MyVariant Identifiers: chrX:g.25028278_25028279insA (hg19) ; chrX:g.25010161_25010162insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010162dup , CM000685.2:g.25010162dup	GRCh38
NC_000023.10:g.25028279dup , CM000685.1:g.25028279dup	GRCh37
NC_000023.9:g.24938200dup	NCBI36
NG_008281.1:g.10787dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1119+98dup MANE Select	ENSP00000368332.4:n.1119+98dup
ENST00000379044.4:c.1119+98dup	ENSP00000368332.4:n.1119+98dup
NM_139058.2:c.1119+98dup	NP_620689.1:n.1119+98dup
NM_139058.3:c.1119+98dup MANE Select	NP_620689.1:n.1119+98dup