Canonical Allele Identifier: CA2820110249

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010183_25010184insCCCCCCCCCCCCGCGCGC , CM000685.2:g.25010183_25010184insCCCCCCCCCCCCGCGCGC	GRCh38
NC_000023.10:g.25028300_25028301insCCCCCCCCCCCCGCGCGC , CM000685.1:g.25028300_25028301insCCCCCCCCCCCCGCGCGC	GRCh37
NC_000023.9:g.24938221_24938222insCCCCCCCCCCCCGCGCGC	NCBI36
NG_008281.1:g.10766_10767insCGCGCGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1119+77_1119+78insCGCGCGGGGGGGGGGGGG MANE Select	ENSP00000368332.4:n.1119+77_1119+78insCGCGCGGGGGGGGGGGGG
ENST00000379044.4:c.1119+77_1119+78insCGCGCGGGGGGGGGGGGG	ENSP00000368332.4:n.1119+77_1119+78insCGCGCGGGGGGGGGGGGG
NM_139058.2:c.1119+77_1119+78insCGCGCGGGGGGGGGGGGG	NP_620689.1:n.1119+77_1119+78insCGCGCGGGGGGGGGGGGG
NM_139058.3:c.1119+77_1119+78insCGCGCGGGGGGGGGGGGG MANE Select	NP_620689.1:n.1119+77_1119+78insCGCGCGGGGGGGGGGGGG