Canonical Allele Identifier: CA2740092071

Gene: ARX

Linked Data

• ClinVar Variation Id: 2921880
• ClinVar RCV Id: RCV003782902

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013589del , CM000685.2:g.25013589del	GRCh38
NC_000023.10:g.25031706del , CM000685.1:g.25031706del	GRCh37
NC_000023.9:g.24941627del	NCBI36
NG_008281.1:g.7363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.409del MANE Select	ENSP00000368332.4:p.Glu137AsnfsTer?
ENST00000379044.4:c.409del	ENSP00000368332.4:p.Glu137AsnfsTer?
NM_139058.2:c.409del	NP_620689.1:p.Glu137AsnfsTer?
NM_139058.3:c.409del MANE Select	NP_620689.1:p.Glu137AsnfsTer?