Canonical Allele Identifier: CA2740092069
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 2940905
ClinVar RCV Id: RCV003792167
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007374_25007381del , CM000685.2:g.25007374_25007381del GRCh38
NC_000023.10:g.25025491_25025498del , CM000685.1:g.25025491_25025498del GRCh37
NC_000023.9:g.24935412_24935419del NCBI36
NG_008281.1:g.13570_13577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1180_1187del MANE Select ENSP00000368332.4:p.His394TrpfsTer?
ENST00000379044.4:c.1180_1187del ENSP00000368332.4:p.His394TrpfsTer?
NM_139058.2:c.1180_1187del NP_620689.1:p.His394TrpfsTer?
NM_139058.3:c.1180_1187del MANE Select NP_620689.1:p.His394TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'