Canonical Allele Identifier: CA2519842814
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012973del , CM000685.2:g.25012973del GRCh38
NC_000023.10:g.25031090del , CM000685.1:g.25031090del GRCh37
NC_000023.9:g.24941011del NCBI36
NG_008281.1:g.7976del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1022del MANE Select ENSP00000368332.4:p.Glu341GlyfsTer23
ENST00000379044.4:c.1022del ENSP00000368332.4:p.Glu341GlyfsTer23
NM_139058.2:c.1022del NP_620689.1:p.Glu341GlyfsTer23
NM_139058.3:c.1022del MANE Select NP_620689.1:p.Glu341GlyfsTer23
Search 100 bp 5'
Search 100 bp 3'