Canonical Allele Identifier: CA2579637287
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007175_25007186del , CM000685.2:g.25007175_25007186del GRCh38
NC_000023.10:g.25025292_25025303del , CM000685.1:g.25025292_25025303del GRCh37
NC_000023.9:g.24935213_24935224del NCBI36
NG_008281.1:g.13763_13774del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1373_1384del MANE Select ENSP00000368332.4:p.Ala458_Leu462delinsVal
ENST00000379044.4:c.1373_1384del ENSP00000368332.4:p.Ala458_Leu462delinsVal
NM_139058.2:c.1373_1384del NP_620689.1:p.Ala458_Leu462delinsVal
NM_139058.3:c.1373_1384del MANE Select NP_620689.1:p.Ala458_Leu462delinsVal
Search 100 bp 5'
Search 100 bp 3'