Canonical Allele Identifier: CA641364597
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1328291159
gnomAD v2: X-25025488-AG-A
gnomAD v4: X-25007371-AG-A
COSMIC: COSM4611494
MyVariant Identifiers: chrX:g.25025489del (hg19) chrX:g.25007372del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007377del , CM000685.2:g.25007377del GRCh38
NC_000023.10:g.25025494del , CM000685.1:g.25025494del GRCh37
NC_000023.9:g.24935415del NCBI36
NG_008281.1:g.13577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1187del MANE Select ENSP00000368332.4:p.Pro396LeufsTer?
ENST00000379044.4:c.1187del ENSP00000368332.4:p.Pro396LeufsTer?
NM_139058.2:c.1187del NP_620689.1:p.Pro396LeufsTer?
NM_139058.3:c.1187del MANE Select NP_620689.1:p.Pro396LeufsTer?
Search 100 bp 5'
Search 100 bp 3'