Canonical Allele Identifier: CA891843650
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 565771
ClinVar RCV Id: RCV000685411
dbSNP Id: rs1569395505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013520_25013521delinsAT , CM000685.2:g.25013520_25013521delinsAT GRCh38
NC_000023.10:g.25031637_25031638delinsAT , CM000685.1:g.25031637_25031638delinsAT GRCh37
NC_000023.9:g.24941558_24941559delinsAT NCBI36
NG_008281.1:g.7428_7429delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.474_475delinsAT MANE Select ENSP00000368332.4:p.Leu159Phe
ENST00000379044.4:c.474_475delinsAT ENSP00000368332.4:p.Leu159Phe
NM_139058.2:c.474_475delinsAT NP_620689.1:p.Leu159Phe
NM_139058.3:c.474_475delinsAT MANE Select NP_620689.1:p.Leu159Phe
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