Canonical Allele Identifier: CA2693353729
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013554-TGCCGCGGCG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013558_25013566del , CM000685.2:g.25013558_25013566del GRCh38
NC_000023.10:g.25031675_25031683del , CM000685.1:g.25031675_25031683del GRCh37
NC_000023.9:g.24941596_24941604del NCBI36
NG_008281.1:g.7386_7394del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.432_440del MANE Select ENSP00000368332.4:p.Ala145_Ala147del
ENST00000379044.4:c.432_440del ENSP00000368332.4:p.Ala145_Ala147del
NM_139058.2:c.432_440del NP_620689.1:p.Ala145_Ala147del
NM_139058.3:c.432_440del MANE Select NP_620689.1:p.Ala145_Ala147del
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