Canonical Allele Identifier: CA2579576415

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013074_25013075del , CM000685.2:g.25013074_25013075del	GRCh38
NC_000023.10:g.25031191_25031192del , CM000685.1:g.25031191_25031192del	GRCh37
NC_000023.9:g.24941112_24941113del	NCBI36
NG_008281.1:g.7875_7876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.921_922del MANE Select	ENSP00000368332.4:p.Glu308GlyfsTer?
ENST00000379044.4:c.921_922del	ENSP00000368332.4:p.Glu308GlyfsTer?
NM_139058.2:c.921_922del	NP_620689.1:p.Glu308GlyfsTer?
NM_139058.3:c.921_922del MANE Select	NP_620689.1:p.Glu308GlyfsTer?