Canonical Allele Identifier: CA2695233368
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25004852_25004853del , CM000685.2:g.25004852_25004853del GRCh38
NC_000023.10:g.25022969_25022970del , CM000685.1:g.25022969_25022970del GRCh37
NC_000023.9:g.24932890_24932891del NCBI36
NG_008281.1:g.16097_16098del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1507_1508del MANE Select ENSP00000368332.4:p.Gln503AlafsTer28
ENST00000379044.4:c.1507_1508del ENSP00000368332.4:p.Gln503AlafsTer28
NM_139058.2:c.1507_1508del NP_620689.1:p.Gln503AlafsTer28
NM_139058.3:c.1507_1508del MANE Select NP_620689.1:p.Gln503AlafsTer28
Search 100 bp 5'
Search 100 bp 3'