Canonical Allele Identifier: CA641364633

Gene: ARX

Linked Data

• ClinVar Variation Id: 951453
• ClinVar RCV Id: RCV001223373 ; RCV001261373
• dbSNP Id: rs1308129416
• gnomAD v2: X-25031551-G-GGGC
• gnomAD v3: X-25013434-G-GGGC
• gnomAD v4: X-25013434-G-GGGC
• MyVariant Identifiers: chrX:g.25031551_25031552insGGC (hg19) ; chrX:g.25013434_25013435insGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013444_25013446dup , CM000685.2:g.25013444_25013446dup	GRCh38
NC_000023.10:g.25031561_25031563dup , CM000685.1:g.25031561_25031563dup	GRCh37
NC_000023.9:g.24941482_24941484dup	NCBI36
NG_008281.1:g.7512_7514dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.558_560dup MANE Select	ENSP00000368332.4:p.Pro187_Ala188insPro
ENST00000379044.4:c.558_560dup	ENSP00000368332.4:p.Pro187_Ala188insPro
NM_139058.2:c.558_560dup	NP_620689.1:p.Pro187_Ala188insPro
NM_139058.3:c.558_560dup MANE Select	NP_620689.1:p.Pro187_Ala188insPro