Canonical Allele Identifier: CA2573158502
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1502117
ClinVar RCV Id: RCV002020074
dbSNP Id: rs2147324326
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013649_25013650delinsCC , CM000685.2:g.25013649_25013650delinsCC GRCh38
NC_000023.10:g.25031766_25031767delinsCC , CM000685.1:g.25031766_25031767delinsCC GRCh37
NC_000023.9:g.24941687_24941688delinsCC NCBI36
NG_008281.1:g.7299_7300delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.345_346delinsGG MANE Select ENSP00000368332.4:p.Thr116Ala
ENST00000379044.4:c.345_346delinsGG ENSP00000368332.4:p.Thr116Ala
NM_139058.2:c.345_346delinsGG NP_620689.1:p.Thr116Ala
NM_139058.3:c.345_346delinsGG MANE Select NP_620689.1:p.Thr116Ala
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