Canonical Allele Identifier: CA658656857
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 473008
ClinVar RCV Id: RCV000543172 RCV002483482
dbSNP Id: rs387906492
gnomAD v3: X-25013659-TGCCGCCGCCGCCGCCGCC-T
gnomAD v4: X-25013659-TGCCGCCGCCGCCGCCGCC-T
MyVariant Identifiers: chrX:g.25031777_25031794del (hg19) chrX:g.25013660_25013677del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013674_25013691del , CM000685.2:g.25013674_25013691del GRCh38
NC_000023.10:g.25031791_25031808del , CM000685.1:g.25031791_25031808del GRCh37
NC_000023.9:g.24941712_24941729del NCBI36
NG_008281.1:g.7272_7289del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.318_335del MANE Select ENSP00000368332.4:p.Ala107_Ala112del
ENST00000379044.4:c.318_335del ENSP00000368332.4:p.Ala107_Ala112del
NM_139058.2:c.318_335del NP_620689.1:p.Ala107_Ala112del
NM_139058.3:c.318_335del MANE Select NP_620689.1:p.Ala107_Ala112del
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