Canonical Allele Identifier: CA209727
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs797045302
gnomAD v3: X-25013529-AGGCCGCGGC-A
gnomAD v4: X-25013529-AGGCCGCGGC-A
MyVariant Identifiers: chrX:g.25031656_25031664del (hg19) chrX:g.25031647_25031655del (hg19) chrX:g.25013539_25013547del (hg38) chrX:g.25013530_25013538del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013539_25013547del , CM000685.2:g.25013539_25013547del GRCh38
NC_000023.10:g.25031656_25031664del , CM000685.1:g.25031656_25031664del GRCh37
NC_000023.9:g.24941577_24941585del NCBI36
NG_008281.1:g.7411_7419del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.457_465del MANE Select ENSP00000368332.4:p.Ala153_Ala155del
ENST00000379044.4:c.457_465del ENSP00000368332.4:p.Ala153_Ala155del
NM_139058.2:c.457_465del NP_620689.1:p.Ala153_Ala155del
NM_139058.3:c.457_465del MANE Select NP_620689.1:p.Ala153_Ala155del
Search 100 bp 5'
Search 100 bp 3'