Canonical Allele Identifier: CA2693353581
Gene: ARX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010175_25010176insCCCCC , CM000685.2:g.25010175_25010176insCCCCC GRCh38
NC_000023.10:g.25028292_25028293insCCCCC , CM000685.1:g.25028292_25028293insCCCCC GRCh37
NC_000023.9:g.24938213_24938214insCCCCC NCBI36
NG_008281.1:g.10774_10775insGGGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+85_1119+86insGGGGG MANE Select ENSP00000368332.4:n.1119+85_1119+86insGGG...
ENST00000379044.4:c.1119+85_1119+86insGGGGG ENSP00000368332.4:n.1119+85_1119+86insGGG...
NM_139058.2:c.1119+85_1119+86insGGGGG NP_620689.1:n.1119+85_1119+86insGGGGG
NM_139058.3:c.1119+85_1119+86insGGGGG MANE Select NP_620689.1:n.1119+85_1119+86insGGGGG