Canonical Allele Identifier: CA874143106
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1405933467
gnomAD v3: X-25006961-TAG-T
gnomAD v4: X-25006961-TAG-T
MyVariant Identifiers: chrX:g.25025079_25025080del (hg19) chrX:g.25006962_25006963del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25006966_25006967del , CM000685.2:g.25006966_25006967del GRCh38
NC_000023.10:g.25025083_25025084del , CM000685.1:g.25025083_25025084del GRCh37
NC_000023.9:g.24935004_24935005del NCBI36
NG_008281.1:g.13986_13987del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1448+148_1448+149del MANE Select ENSP00000368332.4:n.1448+148_1448+149del
ENST00000637993.1:c.61+148_61+149del
ENST00000379044.4:c.1448+148_1448+149del ENSP00000368332.4:n.1448+148_1448+149del
NM_139058.2:c.1448+148_1448+149del NP_620689.1:n.1448+148_1448+149del
NM_139058.3:c.1448+148_1448+149del MANE Select NP_620689.1:n.1448+148_1448+149del
Search 100 bp 5'
Search 100 bp 3'