Canonical Allele Identifier: CA2693353641
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25010194-CATCTCTCTCTCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010195_25010206del , CM000685.2:g.25010195_25010206del GRCh38
NC_000023.10:g.25028312_25028323del , CM000685.1:g.25028312_25028323del GRCh37
NC_000023.9:g.24938233_24938244del NCBI36
NG_008281.1:g.10743_10754del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+54_1119+65del MANE Select ENSP00000368332.4:n.1119+54_1119+65del
ENST00000379044.4:c.1119+54_1119+65del ENSP00000368332.4:n.1119+54_1119+65del
NM_139058.2:c.1119+54_1119+65del NP_620689.1:n.1119+54_1119+65del
NM_139058.3:c.1119+54_1119+65del MANE Select NP_620689.1:n.1119+54_1119+65del
Search 100 bp 5'
Search 100 bp 3'