Canonical Allele Identifier: CA2420207050
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1210879
ClinVar RCV Id: RCV001581601 RCV002573273
dbSNP Id: rs398124508
gnomAD v4: X-25007238-AGGCGGC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007254_25007259del , CM000685.2:g.25007254_25007259del GRCh38
NC_000023.10:g.25025371_25025376del , CM000685.1:g.25025371_25025376del GRCh37
NC_000023.9:g.24935292_24935297del NCBI36
NG_008281.1:g.13705_13710del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1315_1320del MANE Select ENSP00000368332.4:p.Ala439_Ala440del
ENST00000379044.4:c.1315_1320del ENSP00000368332.4:p.Ala439_Ala440del
NM_139058.2:c.1315_1320del NP_620689.1:p.Ala439_Ala440del
NM_139058.3:c.1315_1320del MANE Select NP_620689.1:p.Ala439_Ala440del
Search 100 bp 5'
Search 100 bp 3'