Canonical Allele Identifier: CA2420209310
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013536_25013557delinsGGCGGCCGCGGCCGCGGCTGCC , CM000685.2:g.25013536_25013557delinsGGCGGCCGCGGCCGCGGCTGCC GRCh38
NC_000023.10:g.25031653_25031674delinsGGCGGCCGCGGCCGCGGCTGCC , CM000685.1:g.25031653_25031674delinsGGCGGCCGCGGCCGCGGCTGCC GRCh37
NC_000023.9:g.24941574_24941595delinsGGCGGCCGCGGCCGCGGCTGCC NCBI36
NG_008281.1:g.7392_7413delinsGGCAGCCGCGGCCGCGGCCGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.438_459delinsGGCAGCCGCGGCCGCGGCCGCC MANE Select ENSP00000368332.4:p.Ala146=
ENST00000379044.4:c.438_459delinsGGCAGCCGCGGCCGCGGCCGCC ENSP00000368332.4:p.Ala146=
NM_139058.2:c.438_459delinsGGCAGCCGCGGCCGCGGCCGCC NP_620689.1:p.Ala146=
NM_139058.3:c.438_459delinsGGCAGCCGCGGCCGCGGCCGCC MANE Select NP_620689.1:p.Ala146=
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