Canonical Allele Identifier: CA2420207139
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007477_25007478delinsGC , CM000685.2:g.25007477_25007478delinsGC GRCh38
NC_000023.10:g.25025594_25025595delinsGC , CM000685.1:g.25025594_25025595delinsGC GRCh37
NC_000023.9:g.24935515_24935516delinsGC NCBI36
NG_008281.1:g.13471_13472delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1120-39_1120-38delinsGC MANE Select ENSP00000368332.4:n.1120-39_1120-38delinsGC
ENST00000379044.4:c.1120-39_1120-38delinsGC ENSP00000368332.4:n.1120-39_1120-38delinsGC
NM_139058.2:c.1120-39_1120-38delinsGC NP_620689.1:n.1120-39_1120-38delinsGC
NM_139058.3:c.1120-39_1120-38delinsGC MANE Select NP_620689.1:n.1120-39_1120-38delinsGC