Canonical Allele Identifier: CA2579637401
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25010225-TCCTC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010234_25010237del , CM000685.2:g.25010234_25010237del GRCh38
NC_000023.10:g.25028351_25028354del , CM000685.1:g.25028351_25028354del GRCh37
NC_000023.9:g.24938272_24938275del NCBI36
NG_008281.1:g.10720_10723del

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+31_1119+34del MANE Select ENSP00000368332.4:n.1119+31_1119+34del
ENST00000379044.4:c.1119+31_1119+34del ENSP00000368332.4:n.1119+31_1119+34del
NM_139058.2:c.1119+31_1119+34del NP_620689.1:n.1119+31_1119+34del
NM_139058.3:c.1119+31_1119+34del MANE Select NP_620689.1:n.1119+31_1119+34del
Search 100 bp 5'
Search 100 bp 3'