Canonical Allele Identifier: CA2693353419

Gene: ARX

Linked Data

• gnomAD v4: X-25013157-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013159del , CM000685.2:g.25013159del	GRCh38
NC_000023.10:g.25031276del , CM000685.1:g.25031276del	GRCh37
NC_000023.9:g.24941197del	NCBI36
NG_008281.1:g.7791del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.837del MANE Select	ENSP00000368332.4:p.Ala280LeufsTer?
ENST00000379044.4:c.837del	ENSP00000368332.4:p.Ala280LeufsTer?
NM_139058.2:c.837del	NP_620689.1:p.Ala280LeufsTer?
NM_139058.3:c.837del MANE Select	NP_620689.1:p.Ala280LeufsTer?