Canonical Allele Identifier: CA2579637395
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010208_25010209del , CM000685.2:g.25010208_25010209del GRCh38
NC_000023.10:g.25028325_25028326del , CM000685.1:g.25028325_25028326del GRCh37
NC_000023.9:g.24938246_24938247del NCBI36
NG_008281.1:g.10741_10742del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+52_1119+53del MANE Select ENSP00000368332.4:n.1119+52_1119+53del
ENST00000379044.4:c.1119+52_1119+53del ENSP00000368332.4:n.1119+52_1119+53del
NM_139058.2:c.1119+52_1119+53del NP_620689.1:n.1119+52_1119+53del
NM_139058.3:c.1119+52_1119+53del MANE Select NP_620689.1:n.1119+52_1119+53del
Search 100 bp 5'
Search 100 bp 3'