Canonical Allele Identifier: CA2420209303
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013529_25013544delinsAGGCCGCGGCGGCCGC , CM000685.2:g.25013529_25013544delinsAGGCCGCGGCGGCCGC GRCh38
NC_000023.10:g.25031646_25031661delinsAGGCCGCGGCGGCCGC , CM000685.1:g.25031646_25031661delinsAGGCCGCGGCGGCCGC GRCh37
NC_000023.9:g.24941567_24941582delinsAGGCCGCGGCGGCCGC NCBI36
NG_008281.1:g.7405_7420delinsGCGGCCGCCGCGGCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.451_466delinsGCGGCCGCCGCGGCCT MANE Select ENSP00000368332.4:p.Ala151=
ENST00000379044.4:c.451_466delinsGCGGCCGCCGCGGCCT ENSP00000368332.4:p.Ala151=
NM_139058.2:c.451_466delinsGCGGCCGCCGCGGCCT NP_620689.1:p.Ala151=
NM_139058.3:c.451_466delinsGCGGCCGCCGCGGCCT MANE Select NP_620689.1:p.Ala151=
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