Canonical Allele Identifier: CA2697553016

Gene: ARX

Linked Data

• ClinVar Variation Id: 2691300
• ClinVar RCV Id: RCV003486493

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013532_25013545del , CM000685.2:g.25013532_25013545del	GRCh38
NC_000023.10:g.25031649_25031662del , CM000685.1:g.25031649_25031662del	GRCh37
NC_000023.9:g.24941570_24941583del	NCBI36
NG_008281.1:g.7405_7418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.451_464del MANE Select	ENSP00000368332.4:p.Ala151LeufsTer?
ENST00000379044.4:c.451_464del	ENSP00000368332.4:p.Ala151LeufsTer?
NM_139058.2:c.451_464del	NP_620689.1:p.Ala151LeufsTer?
NM_139058.3:c.451_464del MANE Select	NP_620689.1:p.Ala151LeufsTer?