Canonical Allele Identifier: CA2544071021
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25015516_25015518del , CM000685.2:g.25015516_25015518del GRCh38
NC_000023.10:g.25033633_25033635del , CM000685.1:g.25033633_25033635del GRCh37
NC_000023.9:g.24943554_24943556del NCBI36
NG_008281.1:g.5431_5433del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.196+24_196+26del MANE Select ENSP00000368332.4:n.196+24_196+26del
ENST00000379044.4:c.196+24_196+26del ENSP00000368332.4:n.196+24_196+26del
NM_139058.2:c.196+24_196+26del NP_620689.1:n.196+24_196+26del
NM_139058.3:c.196+24_196+26del MANE Select NP_620689.1:n.196+24_196+26del