Canonical Allele Identifier: CA2573158584

Gene: ARX

Linked Data

• ClinVar Variation Id: 1685548
• ClinVar RCV Id: RCV002249275
• dbSNP Id: rs2147318823

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25004911_25004923del , CM000685.2:g.25004911_25004923del	GRCh38
NC_000023.10:g.25023028_25023040del , CM000685.1:g.25023028_25023040del	GRCh37
NC_000023.9:g.24932949_24932961del	NCBI36
NG_008281.1:g.16031_16043del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1449-8_1453del
ENST00000636885.1:n.37-8_41del
ENST00000379044.4:c.1449-8_1453del
NM_139058.2:c.1449-8_1453del
NM_139058.3:c.1449-8_1453del