Canonical Allele Identifier: CA2420208000
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010195_25010199delinsATCTC , CM000685.2:g.25010195_25010199delinsATCTC GRCh38
NC_000023.10:g.25028312_25028316delinsATCTC , CM000685.1:g.25028312_25028316delinsATCTC GRCh37
NC_000023.9:g.24938233_24938237delinsATCTC NCBI36
NG_008281.1:g.10750_10754delinsGAGAT

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+61_1119+65delinsGAGAT MANE Select ENSP00000368332.4:n.1119+61_1119+65delins...
ENST00000379044.4:c.1119+61_1119+65delinsGAGAT ENSP00000368332.4:n.1119+61_1119+65delins...
NM_139058.2:c.1119+61_1119+65delinsGAGAT NP_620689.1:n.1119+61_1119+65delinsGAGAT
NM_139058.3:c.1119+61_1119+65delinsGAGAT MANE Select NP_620689.1:n.1119+61_1119+65delinsGAGAT