Canonical Allele Identifier: CA2573158583

Gene: ARX

Linked Data

• ClinVar Variation Id: 11189
• ClinVar RCV Id: RCV000011940

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004210_25005726del , CM000685.2:g.25004210_25005726del	GRCh38
NC_000023.10:g.25022327_25023843del , CM000685.1:g.25022327_25023843del	GRCh37
NC_000023.9:g.24932248_24933764del	NCBI36
NG_008281.1:g.15223_16739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1449-816_*460del
ENST00000379044.4:c.1449-816_*460del
NM_139058.2:c.1449-816_*460del
NM_139058.3:c.1449-816_*460del