Canonical Allele Identifier: CA2420205944
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004809_25004824delinsAGGGCGCCCGATGCCA , CM000685.2:g.25004809_25004824delinsAGGGCGCCCGATGCCA GRCh38
NC_000023.10:g.25022926_25022941delinsAGGGCGCCCGATGCCA , CM000685.1:g.25022926_25022941delinsAGGGCGCCCGATGCCA GRCh37
NC_000023.9:g.24932847_24932862delinsAGGGCGCCCGATGCCA NCBI36
NG_008281.1:g.16125_16140delinsTGGCATCGGGCGCCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1535_1550delinsTGGCATCGGGCGCCCT MANE Select ENSP00000368332.4:p.Val512=
ENST00000379044.4:c.1535_1550delinsTGGCATCGGGCGCCCT ENSP00000368332.4:p.Val512=
NM_139058.2:c.1535_1550delinsTGGCATCGGGCGCCCT NP_620689.1:p.Val512=
NM_139058.3:c.1535_1550delinsTGGCATCGGGCGCCCT MANE Select NP_620689.1:p.Val512=
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