Canonical Allele Identifier: CA2693353562
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010167_25010168insG , CM000685.2:g.25010167_25010168insG GRCh38
NC_000023.10:g.25028284_25028285insG , CM000685.1:g.25028284_25028285insG GRCh37
NC_000023.9:g.24938205_24938206insG NCBI36
NG_008281.1:g.10781_10782insC

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+92_1119+93insC MANE Select ENSP00000368332.4:n.1119+92_1119+93insC
ENST00000379044.4:c.1119+92_1119+93insC ENSP00000368332.4:n.1119+92_1119+93insC
NM_139058.2:c.1119+92_1119+93insC NP_620689.1:n.1119+92_1119+93insC
NM_139058.3:c.1119+92_1119+93insC MANE Select NP_620689.1:n.1119+92_1119+93insC