Canonical Allele Identifier: CA1131757211
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 933998
ClinVar RCV Id: RCV001202324
dbSNP Id: rs797045302
gnomAD v3: X-25013529-A-AGGCCGCGGC
gnomAD v4: X-25013529-A-AGGCCGCGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013539_25013547dup , CM000685.2:g.25013539_25013547dup GRCh38
NC_000023.10:g.25031656_25031664dup , CM000685.1:g.25031656_25031664dup GRCh37
NC_000023.9:g.24941577_24941585dup NCBI36
NG_008281.1:g.7411_7419dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.457_465dup MANE Select ENSP00000368332.4:p.Ala155_Trp156insAlaAlaAla
ENST00000379044.4:c.457_465dup ENSP00000368332.4:p.Ala155_Trp156insAlaAlaAla
NM_139058.2:c.457_465dup NP_620689.1:p.Ala155_Trp156insAlaAlaAla
NM_139058.3:c.457_465dup MANE Select NP_620689.1:p.Ala155_Trp156insAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'