Canonical Allele Identifier: CA2693353722
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013539-GGCCGCGGCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013542_25013550del , CM000685.2:g.25013542_25013550del GRCh38
NC_000023.10:g.25031659_25031667del , CM000685.1:g.25031659_25031667del GRCh37
NC_000023.9:g.24941580_24941588del NCBI36
NG_008281.1:g.7401_7409del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.447_455del MANE Select ENSP00000368332.4:p.Ala150_Ala152del
ENST00000379044.4:c.447_455del ENSP00000368332.4:p.Ala150_Ala152del
NM_139058.2:c.447_455del NP_620689.1:p.Ala150_Ala152del
NM_139058.3:c.447_455del MANE Select NP_620689.1:p.Ala150_Ala152del
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