Canonical Allele Identifier: CA2820110261

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010194_25010195insCCCC , CM000685.2:g.25010194_25010195insCCCC	GRCh38
NC_000023.10:g.25028311_25028312insCCCC , CM000685.1:g.25028311_25028312insCCCC	GRCh37
NC_000023.9:g.24938232_24938233insCCCC	NCBI36
NG_008281.1:g.10757_10758insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1119+68_1119+69insGGGG MANE Select	ENSP00000368332.4:n.1119+68_1119+69insGGGG
ENST00000379044.4:c.1119+68_1119+69insGGGG	ENSP00000368332.4:n.1119+68_1119+69insGGGG
NM_139058.2:c.1119+68_1119+69insGGGG	NP_620689.1:n.1119+68_1119+69insGGGG
NM_139058.3:c.1119+68_1119+69insGGGG MANE Select	NP_620689.1:n.1119+68_1119+69insGGGG