Canonical Allele Identifier: CA121408

Gene: ARX

Linked Data

• ClinVar Variation Id: 11187
• ClinVar RCV Id: RCV000011937 ; RCV000033212 ; RCV000487265 ; RCV000700342 ; RCV001580167
• dbSNP Id: rs387906493
• gnomAD v2: X-25031660-G-GCGGCCGCGGCTGCCGCGGCGGCCC
• gnomAD v3: X-25013543-G-GCGGCCGCGGCTGCCGCGGCGGCCC
• gnomAD v4: X-25013543-G-GCGGCCGCGGCTGCCGCGGCGGCCC
• MyVariant Identifiers: chrX:g.25031661_25031684dup24 (hg19) ; chrX:g.25031660_25031661insCGGCCGCGGCTGCCGCGGCGGCCC (hg19) ; chrX:g.25013544_25013567dup24 (hg38) ; chrX:g.25013543_25013544insCGGCCGCGGCTGCCGCGGCGGCCC (hg38)
• PubMed: PMID:2080994 ; PMID:3177452 ; PMID:5008734 ; PMID:8826464 ; PMID:10353782 ; PMID:10398246 ; PMID:11889467 ; PMID:11971879 ; PMID:12116222 ; PMID:12376938 ; PMID:12376946 ; PMID:12376949 ; PMID:12640086 ; PMID:15151512 ; PMID:15200506 ; PMID:15850492 ; PMID:16078051 ; PMID:17480217

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013545_25013568dup , CM000685.2:g.25013545_25013568dup	GRCh38
NC_000023.10:g.25031662_25031685dup , CM000685.1:g.25031662_25031685dup	GRCh37
NC_000023.9:g.24941583_24941606dup	NCBI36
NG_008281.1:g.7382_7405dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.428_451dup MANE Select	ENSP00000368332.4:p.Ala150_Ala151insGlyAl...
ENST00000379044.4:c.428_451dup	ENSP00000368332.4:p.Ala150_Ala151insGlyAl...
NM_139058.2:c.428_451dup	NP_620689.1:p.Ala150_Ala151insGlyAlaAlaAl...
NM_139058.3:c.428_451dup MANE Select	NP_620689.1:p.Ala150_Ala151insGlyAlaAlaAl...