Canonical Allele Identifier: CA2420206960

Gene: ARX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007037_25007038delinsGC , CM000685.2:g.25007037_25007038delinsGC	GRCh38
NC_000023.10:g.25025154_25025155delinsGC , CM000685.1:g.25025154_25025155delinsGC	GRCh37
NC_000023.9:g.24935075_24935076delinsGC	NCBI36
NG_008281.1:g.13911_13912delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1448+73_1448+74delinsGC MANE Select	ENSP00000368332.4:n.1448+73_1448+74delinsGC
ENST00000637993.1:c.61+73_61+74delinsGC
ENST00000379044.4:c.1448+73_1448+74delinsGC	ENSP00000368332.4:n.1448+73_1448+74delinsGC
NM_139058.2:c.1448+73_1448+74delinsGC	NP_620689.1:n.1448+73_1448+74delinsGC
NM_139058.3:c.1448+73_1448+74delinsGC MANE Select	NP_620689.1:n.1448+73_1448+74delinsGC