Canonical Allele Identifier: CA874147637
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1426625316
gnomAD v3: X-25013528-CAGGCCGCGGCGGCCG-C
gnomAD v4: X-25013528-CAGGCCGCGGCGGCCG-C
MyVariant Identifiers: chrX:g.25031646_25031660del (hg19) chrX:g.25013529_25013543del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013529_25013543del , CM000685.2:g.25013529_25013543del GRCh38
NC_000023.10:g.25031646_25031660del , CM000685.1:g.25031646_25031660del GRCh37
NC_000023.9:g.24941567_24941581del NCBI36
NG_008281.1:g.7406_7420del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.452_466del MANE Select ENSP00000368332.4:p.Ala151_Trp156delinsGly
ENST00000379044.4:c.452_466del ENSP00000368332.4:p.Ala151_Trp156delinsGly
NM_139058.2:c.452_466del NP_620689.1:p.Ala151_Trp156delinsGly
NM_139058.3:c.452_466del MANE Select NP_620689.1:p.Ala151_Trp156delinsGly
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