Canonical Allele Identifier: CA2579576417
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013145_25013146del , CM000685.2:g.25013145_25013146del GRCh38
NC_000023.10:g.25031262_25031263del , CM000685.1:g.25031262_25031263del GRCh37
NC_000023.9:g.24941183_24941184del NCBI36
NG_008281.1:g.7805_7806del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.851_852del MANE Select ENSP00000368332.4:p.Thr284ArgfsTer19
ENST00000379044.4:c.851_852del ENSP00000368332.4:p.Thr284ArgfsTer19
NM_139058.2:c.851_852del NP_620689.1:p.Thr284ArgfsTer19
NM_139058.3:c.851_852del MANE Select NP_620689.1:p.Thr284ArgfsTer19
Search 100 bp 5'
Search 100 bp 3'