Canonical Allele Identifier: CA2579576420
Gene: ARX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013563_25013565del , CM000685.2:g.25013563_25013565del GRCh38
NC_000023.10:g.25031680_25031682del , CM000685.1:g.25031680_25031682del GRCh37
NC_000023.9:g.24941601_24941603del NCBI36
NG_008281.1:g.7389_7391del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.435_437del MANE Select ENSP00000368332.4:p.Ala146del
ENST00000379044.4:c.435_437del ENSP00000368332.4:p.Ala146del
NM_139058.2:c.435_437del NP_620689.1:p.Ala146del
NM_139058.3:c.435_437del MANE Select NP_620689.1:p.Ala146del
Search 100 bp 5'
Search 100 bp 3'