Canonical Allele Identifier: CA2693353587
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25010176-A-ACCCCC
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010179_25010183dup , CM000685.2:g.25010179_25010183dup GRCh38
NC_000023.10:g.25028296_25028300dup , CM000685.1:g.25028296_25028300dup GRCh37
NC_000023.9:g.24938217_24938221dup NCBI36
NG_008281.1:g.10768_10772dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+79_1119+83dup MANE Select ENSP00000368332.4:n.1119+79_1119+83dup
ENST00000379044.4:c.1119+79_1119+83dup ENSP00000368332.4:n.1119+79_1119+83dup
NM_139058.2:c.1119+79_1119+83dup NP_620689.1:n.1119+79_1119+83dup
NM_139058.3:c.1119+79_1119+83dup MANE Select NP_620689.1:n.1119+79_1119+83dup
Search 100 bp 5'
Search 100 bp 3'