Canonical Allele Identifier: CA2580100523

Gene: ARX

Linked Data

• ClinVar Variation Id: 1879756
• ClinVar RCV Id: RCV002512401

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013523_25013563del , CM000685.2:g.25013523_25013563del	GRCh38
NC_000023.10:g.25031640_25031680del , CM000685.1:g.25031640_25031680del	GRCh37
NC_000023.9:g.24941561_24941601del	NCBI36
NG_008281.1:g.7389_7429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.435_475del MANE Select	ENSP00000368332.4:p.Ala146GlnfsTer?
ENST00000379044.4:c.435_475del	ENSP00000368332.4:p.Ala146GlnfsTer?
NM_139058.2:c.435_475del	NP_620689.1:p.Ala146GlnfsTer?
NM_139058.3:c.435_475del MANE Select	NP_620689.1:p.Ala146GlnfsTer?