Canonical Allele Identifier: CA2693353738

Gene: ARX

Linked Data

• gnomAD v4: X-25013745-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25013748del , CM000685.2:g.25013748del	GRCh38
NC_000023.10:g.25031865del , CM000685.1:g.25031865del	GRCh37
NC_000023.9:g.24941786del	NCBI36
NG_008281.1:g.7203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.249del MANE Select	ENSP00000368332.4:p.Lys84SerfsTer?
ENST00000379044.4:c.249del	ENSP00000368332.4:p.Lys84SerfsTer?
NM_139058.2:c.249del	NP_620689.1:p.Lys84SerfsTer?
NM_139058.3:c.249del MANE Select	NP_620689.1:p.Lys84SerfsTer?