Canonical Allele Identifier: CA2842641268

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013005dup , CM000685.2:g.25013005dup	GRCh38
NC_000023.10:g.25031122dup , CM000685.1:g.25031122dup	GRCh37
NC_000023.9:g.24941043dup	NCBI36
NG_008281.1:g.7944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.990dup MANE Select	ENSP00000368332.4:p.Tyr331LeufsTer?
ENST00000379044.4:c.990dup	ENSP00000368332.4:p.Tyr331LeufsTer?
NM_139058.2:c.990dup	NP_620689.1:p.Tyr331LeufsTer?
NM_139058.3:c.990dup MANE Select	NP_620689.1:p.Tyr331LeufsTer?