Canonical Allele Identifier: CA2573158498
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1517045
ClinVar RCV Id: RCV002027059
dbSNP Id: rs2147323937
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013354_25013365del , CM000685.2:g.25013354_25013365del GRCh38
NC_000023.10:g.25031471_25031482del , CM000685.1:g.25031471_25031482del GRCh37
NC_000023.9:g.24941392_24941403del NCBI36
NG_008281.1:g.7589_7600del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.635_646del MANE Select ENSP00000368332.4:p.Gly212_Pro215del
ENST00000379044.4:c.635_646del ENSP00000368332.4:p.Gly212_Pro215del
NM_139058.2:c.635_646del NP_620689.1:p.Gly212_Pro215del
NM_139058.3:c.635_646del MANE Select NP_620689.1:p.Gly212_Pro215del
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