Canonical Allele Identifier: CA2420208988

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25012805_25012807delinsCAG , CM000685.2:g.25012805_25012807delinsCAG	GRCh38
NC_000023.10:g.25030922_25030924delinsCAG , CM000685.1:g.25030922_25030924delinsCAG	GRCh37
NC_000023.9:g.24940843_24940845delinsCAG	NCBI36
NG_008281.1:g.8142_8144delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1073+115_1073+117delinsCTG MANE Select	ENSP00000368332.4:n.1073+115_1073+117delinsCTG
ENST00000379044.4:c.1073+115_1073+117delinsCTG	ENSP00000368332.4:n.1073+115_1073+117delinsCTG
NM_139058.2:c.1073+115_1073+117delinsCTG	NP_620689.1:n.1073+115_1073+117delinsCTG
NM_139058.3:c.1073+115_1073+117delinsCTG MANE Select	NP_620689.1:n.1073+115_1073+117delinsCTG