Canonical Allele Identifier: CA2420207123

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007448_25007450delinsCAG , CM000685.2:g.25007448_25007450delinsCAG	GRCh38
NC_000023.10:g.25025565_25025567delinsCAG , CM000685.1:g.25025565_25025567delinsCAG	GRCh37
NC_000023.9:g.24935486_24935488delinsCAG	NCBI36
NG_008281.1:g.13499_13501delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1120-11_1120-9delinsCTG MANE Select	ENSP00000368332.4:n.1120-11_1120-9delinsCTG
ENST00000379044.4:c.1120-11_1120-9delinsCTG	ENSP00000368332.4:n.1120-11_1120-9delinsCTG
NM_139058.2:c.1120-11_1120-9delinsCTG	NP_620689.1:n.1120-11_1120-9delinsCTG
NM_139058.3:c.1120-11_1120-9delinsCTG MANE Select	NP_620689.1:n.1120-11_1120-9delinsCTG