Canonical Allele Identifier: CA2693353688
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25010221-GCCCTCCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010228_25010234del , CM000685.2:g.25010228_25010234del GRCh38
NC_000023.10:g.25028345_25028351del , CM000685.1:g.25028345_25028351del GRCh37
NC_000023.9:g.24938266_24938272del NCBI36
NG_008281.1:g.10721_10727del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+32_1119+38del MANE Select ENSP00000368332.4:n.1119+32_1119+38del
ENST00000379044.4:c.1119+32_1119+38del ENSP00000368332.4:n.1119+32_1119+38del
NM_139058.2:c.1119+32_1119+38del NP_620689.1:n.1119+32_1119+38del
NM_139058.3:c.1119+32_1119+38del MANE Select NP_620689.1:n.1119+32_1119+38del
Search 100 bp 5'
Search 100 bp 3'