Canonical Allele Identifier: CA641364590

Gene: ARX

Linked Data

• dbSNP Id: rs1454675394
• gnomAD v2: X-25025192-C-CAGAA
• gnomAD v3: X-25007075-C-CAGAA
• gnomAD v4: X-25007075-C-CAGAA
• MyVariant Identifiers: chrX:g.25025192_25025193insAGAA (hg19) ; chrX:g.25007075_25007076insAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007078_25007079insAAGA , CM000685.2:g.25007078_25007079insAAGA	GRCh38
NC_000023.10:g.25025195_25025196insAAGA , CM000685.1:g.25025195_25025196insAAGA	GRCh37
NC_000023.9:g.24935116_24935117insAAGA	NCBI36
NG_008281.1:g.13873_13874insTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1448+35_1448+36insTTCT MANE Select	ENSP00000368332.4:n.1448+35_1448+36insTTCT
ENST00000637993.1:c.61+35_61+36insTTCT
ENST00000379044.4:c.1448+35_1448+36insTTCT	ENSP00000368332.4:n.1448+35_1448+36insTTCT
NM_139058.2:c.1448+35_1448+36insTTCT	NP_620689.1:n.1448+35_1448+36insTTCT
NM_139058.3:c.1448+35_1448+36insTTCT MANE Select	NP_620689.1:n.1448+35_1448+36insTTCT