Canonical Allele Identifier: CA2693353610
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25010187-A-ACC
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010188_25010189dup , CM000685.2:g.25010188_25010189dup GRCh38
NC_000023.10:g.25028305_25028306dup , CM000685.1:g.25028305_25028306dup GRCh37
NC_000023.9:g.24938226_24938227dup NCBI36
NG_008281.1:g.10760_10761dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+71_1119+72dup MANE Select ENSP00000368332.4:n.1119+71_1119+72dup
ENST00000379044.4:c.1119+71_1119+72dup ENSP00000368332.4:n.1119+71_1119+72dup
NM_139058.2:c.1119+71_1119+72dup NP_620689.1:n.1119+71_1119+72dup
NM_139058.3:c.1119+71_1119+72dup MANE Select NP_620689.1:n.1119+71_1119+72dup
Search 100 bp 5'
Search 100 bp 3'