Canonical Allele Identifier: CA641006221

Gene: ARX

Linked Data

• dbSNP Id: rs2048695885
• gnomAD v2: X-25028284-ACCCCCCGCAC-A
• gnomAD v3: X-25010167-ACCCCCCGCAC-A
• gnomAD v4: X-25010167-ACCCCCCGCAC-A
• MyVariant Identifiers: chrX:g.25028285_25028294del (hg19) ; chrX:g.25010168_25010177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010176_25010185del , CM000685.2:g.25010176_25010185del	GRCh38
NC_000023.10:g.25028293_25028302del , CM000685.1:g.25028293_25028302del	GRCh37
NC_000023.9:g.24938214_24938223del	NCBI36
NG_008281.1:g.10772_10781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1119+83_1119+92del MANE Select	ENSP00000368332.4:n.1119+83_1119+92del
ENST00000379044.4:c.1119+83_1119+92del	ENSP00000368332.4:n.1119+83_1119+92del
NM_139058.2:c.1119+83_1119+92del	NP_620689.1:n.1119+83_1119+92del
NM_139058.3:c.1119+83_1119+92del MANE Select	NP_620689.1:n.1119+83_1119+92del