Canonical Allele Identifier: CA641364600

Gene: ARX

Linked Data

• dbSNP Id: rs1569394173
• gnomAD v2: X-25025580-G-GTCGGC
• gnomAD v4: X-25007463-G-GTCGGC
• MyVariant Identifiers: chrX:g.25025580_25025581insTCGGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.25007464_25007468dup , CM000685.2:g.25007464_25007468dup	GRCh38
NC_000023.10:g.25025581_25025585dup , CM000685.1:g.25025581_25025585dup	GRCh37
NC_000023.9:g.24935502_24935506dup	NCBI36
NG_008281.1:g.13481_13485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379044.5:c.1120-29_1120-25dup MANE Select	ENSP00000368332.4:n.1120-29_1120-25dup
ENST00000379044.4:c.1120-29_1120-25dup	ENSP00000368332.4:n.1120-29_1120-25dup
NM_139058.2:c.1120-29_1120-25dup	NP_620689.1:n.1120-29_1120-25dup
NM_139058.3:c.1120-29_1120-25dup MANE Select	NP_620689.1:n.1120-29_1120-25dup