Canonical Allele Identifier: CA2420207086
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 995570
ClinVar RCV Id: RCV001289542 RCV001819980
dbSNP Id: rs2048682798
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007339_25007342dup , CM000685.2:g.25007339_25007342dup GRCh38
NC_000023.10:g.25025456_25025459dup , CM000685.1:g.25025456_25025459dup GRCh37
NC_000023.9:g.24935377_24935380dup NCBI36
NG_008281.1:g.13613_13616dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1223_1226dup MANE Select ENSP00000368332.4:p.Leu410ProfsTer?
ENST00000379044.4:c.1223_1226dup ENSP00000368332.4:p.Leu410ProfsTer?
NM_139058.2:c.1223_1226dup NP_620689.1:p.Leu410ProfsTer?
NM_139058.3:c.1223_1226dup MANE Select NP_620689.1:p.Leu410ProfsTer?
Search 100 bp 5'
Search 100 bp 3'