Canonical Allele Identifier: CA2693353353

Gene: ARX

Linked Data

• gnomAD v4: X-25007399-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007402del , CM000685.2:g.25007402del	GRCh38
NC_000023.10:g.25025519del , CM000685.1:g.25025519del	GRCh37
NC_000023.9:g.24935440del	NCBI36
NG_008281.1:g.13549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1159del MANE Select	ENSP00000368332.4:p.Glu387ArgfsTer?
ENST00000379044.4:c.1159del	ENSP00000368332.4:p.Glu387ArgfsTer?
NM_139058.2:c.1159del	NP_620689.1:p.Glu387ArgfsTer?
NM_139058.3:c.1159del MANE Select	NP_620689.1:p.Glu387ArgfsTer?