Canonical Allele Identifier: CA2693353554

Gene: ARX

Linked Data

• gnomAD v4: X-25010165-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010166dup , CM000685.2:g.25010166dup	GRCh38
NC_000023.10:g.25028283dup , CM000685.1:g.25028283dup	GRCh37
NC_000023.9:g.24938204dup	NCBI36
NG_008281.1:g.10783dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1119+94dup MANE Select	ENSP00000368332.4:n.1119+94dup
ENST00000379044.4:c.1119+94dup	ENSP00000368332.4:n.1119+94dup
NM_139058.2:c.1119+94dup	NP_620689.1:n.1119+94dup
NM_139058.3:c.1119+94dup MANE Select	NP_620689.1:n.1119+94dup