Canonical Allele Identifier: CA2693353262

Gene: ARX

Linked Data

• gnomAD v4: X-25012802-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25012805_25012806del , CM000685.2:g.25012805_25012806del	GRCh38
NC_000023.10:g.25030922_25030923del , CM000685.1:g.25030922_25030923del	GRCh37
NC_000023.9:g.24940843_24940844del	NCBI36
NG_008281.1:g.8145_8146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1073+118_1073+119del MANE Select	ENSP00000368332.4:n.1073+118_1073+119del
ENST00000379044.4:c.1073+118_1073+119del	ENSP00000368332.4:n.1073+118_1073+119del
NM_139058.2:c.1073+118_1073+119del	NP_620689.1:n.1073+118_1073+119del
NM_139058.3:c.1073+118_1073+119del MANE Select	NP_620689.1:n.1073+118_1073+119del