Canonical Allele Identifier: CA2420209317
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013543_25013567delinsGCGGCCGCGGCTGCCGCGGCGGCCC , CM000685.2:g.25013543_25013567delinsGCGGCCGCGGCTGCCGCGGCGGCCC GRCh38
NC_000023.10:g.25031660_25031684delinsGCGGCCGCGGCTGCCGCGGCGGCCC , CM000685.1:g.25031660_25031684delinsGCGGCCGCGGCTGCCGCGGCGGCCC GRCh37
NC_000023.9:g.24941581_24941605delinsGCGGCCGCGGCTGCCGCGGCGGCCC NCBI36
NG_008281.1:g.7382_7406delinsGGGCCGCCGCGGCAGCCGCGGCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.428_452delinsGGGCCGCCGCGGCAGCCGCGGCCGC MANE Select ENSP00000368332.4:p.Gly143=
ENST00000379044.4:c.428_452delinsGGGCCGCCGCGGCAGCCGCGGCCGC ENSP00000368332.4:p.Gly143=
NM_139058.2:c.428_452delinsGGGCCGCCGCGGCAGCCGCGGCCGC NP_620689.1:p.Gly143=
NM_139058.3:c.428_452delinsGGGCCGCCGCGGCAGCCGCGGCCGC MANE Select NP_620689.1:p.Gly143=
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