Canonical Allele Identifier: CA327733036

Gene: ARX

Linked Data

• dbSNP Id: rs976074798
• gnomAD v3: X-25012835-G-GGCC
• gnomAD v4: X-25012835-G-GGCC
• MyVariant Identifiers: chrX:g.25030952_25030953insGCC (hg19) ; chrX:g.25012835_25012836insGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25012837_25012839dup , CM000685.2:g.25012837_25012839dup	GRCh38
NC_000023.10:g.25030954_25030956dup , CM000685.1:g.25030954_25030956dup	GRCh37
NC_000023.9:g.24940875_24940877dup	NCBI36
NG_008281.1:g.8111_8113dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1073+84_1073+86dup MANE Select	ENSP00000368332.4:n.1073+84_1073+86dup
ENST00000379044.4:c.1073+84_1073+86dup	ENSP00000368332.4:n.1073+84_1073+86dup
NM_139058.2:c.1073+84_1073+86dup	NP_620689.1:n.1073+84_1073+86dup
NM_139058.3:c.1073+84_1073+86dup MANE Select	NP_620689.1:n.1073+84_1073+86dup