Canonical Allele Identifier: CA2420206891

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25006861_25006870delinsTCGGTTGTCA , CM000685.2:g.25006861_25006870delinsTCGGTTGTCA	GRCh38
NC_000023.10:g.25024978_25024987delinsTCGGTTGTCA , CM000685.1:g.25024978_25024987delinsTCGGTTGTCA	GRCh37
NC_000023.9:g.24934899_24934908delinsTCGGTTGTCA	NCBI36
NG_008281.1:g.14079_14088delinsTGACAACCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1448+241_1448+250delinsTGACAACCGA MANE Select	ENSP00000368332.4:n.1448+241_1448+250delinsTGACAACCGA
ENST00000637993.1:c.61+241_62-234delinsTGACAACCGA
ENST00000379044.4:c.1448+241_1448+250delinsTGACAACCGA	ENSP00000368332.4:n.1448+241_1448+250delinsTGACAACCGA
NM_139058.2:c.1448+241_1448+250delinsTGACAACCGA	NP_620689.1:n.1448+241_1448+250delinsTGACAACCGA
NM_139058.3:c.1448+241_1448+250delinsTGACAACCGA MANE Select	NP_620689.1:n.1448+241_1448+250delinsTGACAACCGA