Canonical Allele Identifier: CA2693353407

Gene: ARX

Linked Data

• gnomAD v4: X-25007474-TCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007475_25007476del , CM000685.2:g.25007475_25007476del	GRCh38
NC_000023.10:g.25025592_25025593del , CM000685.1:g.25025592_25025593del	GRCh37
NC_000023.9:g.24935513_24935514del	NCBI36
NG_008281.1:g.13473_13474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1120-37_1120-36del MANE Select	ENSP00000368332.4:n.1120-37_1120-36del
ENST00000379044.4:c.1120-37_1120-36del	ENSP00000368332.4:n.1120-37_1120-36del
NM_139058.2:c.1120-37_1120-36del	NP_620689.1:n.1120-37_1120-36del
NM_139058.3:c.1120-37_1120-36del MANE Select	NP_620689.1:n.1120-37_1120-36del