Canonical Allele Identifier: CA1131756958
Gene: ARX HGNC NCBI

Linked Data

gnomAD v3: X-25012890-CCGCTGCGACCGCGACCA-C
gnomAD v4: X-25012890-CCGCTGCGACCGCGACCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012892_25012908del , CM000685.2:g.25012892_25012908del GRCh38
NC_000023.10:g.25031009_25031025del , CM000685.1:g.25031009_25031025del GRCh37
NC_000023.9:g.24940930_24940946del NCBI36
NG_008281.1:g.8042_8058del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1073+15_1073+31del MANE Select ENSP00000368332.4:n.1073+15_1073+31del
ENST00000379044.4:c.1073+15_1073+31del ENSP00000368332.4:n.1073+15_1073+31del
NM_139058.2:c.1073+15_1073+31del NP_620689.1:n.1073+15_1073+31del
NM_139058.3:c.1073+15_1073+31del MANE Select NP_620689.1:n.1073+15_1073+31del
Search 100 bp 5'
Search 100 bp 3'