Canonical Allele Identifier: CA2420209449

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013836_25013837delinsCG , CM000685.2:g.25013836_25013837delinsCG	GRCh38
NC_000023.10:g.25031953_25031954delinsCG , CM000685.1:g.25031953_25031954delinsCG	GRCh37
NC_000023.9:g.24941874_24941875delinsCG	NCBI36
NG_008281.1:g.7112_7113delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.197-39_197-38delinsCG MANE Select	ENSP00000368332.4:n.197-39_197-38delinsCG
ENST00000379044.4:c.197-39_197-38delinsCG	ENSP00000368332.4:n.197-39_197-38delinsCG
NM_139058.2:c.197-39_197-38delinsCG	NP_620689.1:n.197-39_197-38delinsCG
NM_139058.3:c.197-39_197-38delinsCG MANE Select	NP_620689.1:n.197-39_197-38delinsCG