Canonical Allele Identifier: CA224141
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 96464
ClinVar RCV Id: RCV000082614
dbSNP Id: rs398124520
MyVariant Identifiers: chrX:g.25031129_25031132del (hg19) chrX:g.25031129_25031132delTGTT (hg19) chrX:g.25013012_25013015del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013014_25013017del , CM000685.2:g.25013014_25013017del GRCh38
NC_000023.10:g.25031131_25031134del , CM000685.1:g.25031131_25031134del GRCh37
NC_000023.9:g.24941052_24941055del NCBI36
NG_008281.1:g.7934_7937del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.980_983del MANE Select ENSP00000368332.4:p.Lys327ArgfsTer?
ENST00000379044.4:c.980_983del ENSP00000368332.4:p.Lys327ArgfsTer?
NM_139058.2:c.980_983del NP_620689.1:p.Lys327ArgfsTer?
NM_139058.3:c.980_983del MANE Select NP_620689.1:p.Lys327ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'