Canonical Allele Identifier: CA2693353644

Gene: ARX

Linked Data

• gnomAD v4: X-25010194-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25010195_25010196insAA , CM000685.2:g.25010195_25010196insAA	GRCh38
NC_000023.10:g.25028312_25028313insAA , CM000685.1:g.25028312_25028313insAA	GRCh37
NC_000023.9:g.24938233_24938234insAA	NCBI36
NG_008281.1:g.10754_10755insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000379044.5:c.1119+65_1119+66insTT MANE Select	ENSP00000368332.4:n.1119+65_1119+66insTT
ENST00000379044.4:c.1119+65_1119+66insTT	ENSP00000368332.4:n.1119+65_1119+66insTT
NM_139058.2:c.1119+65_1119+66insTT	NP_620689.1:n.1119+65_1119+66insTT
NM_139058.3:c.1119+65_1119+66insTT MANE Select	NP_620689.1:n.1119+65_1119+66insTT