Canonical Allele Identifier: CA2499226602
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1164076
ClinVar RCV Id: RCV001509556
dbSNP Id: rs2147320332
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007145_25007154del , CM000685.2:g.25007145_25007154del GRCh38
NC_000023.10:g.25025262_25025271del , CM000685.1:g.25025262_25025271del GRCh37
NC_000023.9:g.24935183_24935192del NCBI36
NG_008281.1:g.13796_13805del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1406_1415del MANE Select ENSP00000368332.4:p.Ala469AspfsTer20
ENST00000637993.1:c.19_28del
ENST00000379044.4:c.1406_1415del ENSP00000368332.4:p.Ala469AspfsTer20
NM_139058.2:c.1406_1415del NP_620689.1:p.Ala469AspfsTer20
NM_139058.3:c.1406_1415del MANE Select NP_620689.1:p.Ala469AspfsTer20
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