Canonical Allele Identifier: CA2420209312
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013539_25013554delinsGGCCGCGGCCGCGGCT , CM000685.2:g.25013539_25013554delinsGGCCGCGGCCGCGGCT GRCh38
NC_000023.10:g.25031656_25031671delinsGGCCGCGGCCGCGGCT , CM000685.1:g.25031656_25031671delinsGGCCGCGGCCGCGGCT GRCh37
NC_000023.9:g.24941577_24941592delinsGGCCGCGGCCGCGGCT NCBI36
NG_008281.1:g.7395_7410delinsAGCCGCGGCCGCGGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.441_456delinsAGCCGCGGCCGCGGCC MANE Select ENSP00000368332.4:p.Ala147=
ENST00000379044.4:c.441_456delinsAGCCGCGGCCGCGGCC ENSP00000368332.4:p.Ala147=
NM_139058.2:c.441_456delinsAGCCGCGGCCGCGGCC NP_620689.1:p.Ala147=
NM_139058.3:c.441_456delinsAGCCGCGGCCGCGGCC MANE Select NP_620689.1:p.Ala147=
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