Canonical Allele Identifier: CA2693353616
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25010189-C-CCA
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010189_25010190insCA , CM000685.2:g.25010189_25010190insCA GRCh38
NC_000023.10:g.25028306_25028307insCA , CM000685.1:g.25028306_25028307insCA GRCh37
NC_000023.9:g.24938227_24938228insCA NCBI36
NG_008281.1:g.10759_10760insTG

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.1119+70_1119+71insTG MANE Select ENSP00000368332.4:n.1119+70_1119+71insTG
ENST00000379044.4:c.1119+70_1119+71insTG ENSP00000368332.4:n.1119+70_1119+71insTG
NM_139058.2:c.1119+70_1119+71insTG NP_620689.1:n.1119+70_1119+71insTG
NM_139058.3:c.1119+70_1119+71insTG MANE Select NP_620689.1:n.1119+70_1119+71insTG
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Search 100 bp 3'