Canonical Allele Identifier: CA2420209297
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013527_25013539delinsCCAGGCCGCGGCG , CM000685.2:g.25013527_25013539delinsCCAGGCCGCGGCG GRCh38
NC_000023.10:g.25031644_25031656delinsCCAGGCCGCGGCG , CM000685.1:g.25031644_25031656delinsCCAGGCCGCGGCG GRCh37
NC_000023.9:g.24941565_24941577delinsCCAGGCCGCGGCG NCBI36
NG_008281.1:g.7410_7422delinsCGCCGCGGCCTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.456_468delinsCGCCGCGGCCTGG MANE Select ENSP00000368332.4:p.Ala152=
ENST00000379044.4:c.456_468delinsCGCCGCGGCCTGG ENSP00000368332.4:p.Ala152=
NM_139058.2:c.456_468delinsCGCCGCGGCCTGG NP_620689.1:p.Ala152=
NM_139058.3:c.456_468delinsCGCCGCGGCCTGG MANE Select NP_620689.1:p.Ala152=
Search 100 bp 5'
Search 100 bp 3'