Canonical Allele Identifier: CA2693353417
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25007482-GCGGGCGCAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007488_25007496del , CM000685.2:g.25007488_25007496del GRCh38
NC_000023.10:g.25025605_25025613del , CM000685.1:g.25025605_25025613del GRCh37
NC_000023.9:g.24935526_24935534del NCBI36
NG_008281.1:g.13458_13466del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1120-52_1120-44del MANE Select ENSP00000368332.4:n.1120-52_1120-44del
ENST00000379044.4:c.1120-52_1120-44del ENSP00000368332.4:n.1120-52_1120-44del
NM_139058.2:c.1120-52_1120-44del NP_620689.1:n.1120-52_1120-44del
NM_139058.3:c.1120-52_1120-44del MANE Select NP_620689.1:n.1120-52_1120-44del
Search 100 bp 5'
Search 100 bp 3'