Canonical Allele Identifier: CA2820100841

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013460_25013461insT , CM000685.2:g.25013460_25013461insT	GRCh38
NC_000023.10:g.25031577_25031578insT , CM000685.1:g.25031577_25031578insT	GRCh37
NC_000023.9:g.24941498_24941499insT	NCBI36
NG_008281.1:g.7488_7489insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.534_535insA MANE Select	ENSP00000368332.4:p.Gly179ArgfsTer?
ENST00000379044.4:c.534_535insA	ENSP00000368332.4:p.Gly179ArgfsTer?
NM_139058.2:c.534_535insA	NP_620689.1:p.Gly179ArgfsTer?
NM_139058.3:c.534_535insA MANE Select	NP_620689.1:p.Gly179ArgfsTer?