Canonical Allele Identifier: CA2511077634
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013152_25013156del , CM000685.2:g.25013152_25013156del GRCh38
NC_000023.10:g.25031269_25031273del , CM000685.1:g.25031269_25031273del GRCh37
NC_000023.9:g.24941190_24941194del NCBI36
NG_008281.1:g.7793_7797del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.839_843del MANE Select ENSP00000368332.4:p.Ala280GlyfsTer22
ENST00000379044.4:c.839_843del ENSP00000368332.4:p.Ala280GlyfsTer22
NM_139058.2:c.839_843del NP_620689.1:p.Ala280GlyfsTer22
NM_139058.3:c.839_843del MANE Select NP_620689.1:p.Ala280GlyfsTer22
Search 100 bp 5'
Search 100 bp 3'