Canonical Allele Identifier: CA2693353452
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25007516-T-TGGCGCGCTGCGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007520_25007531dup , CM000685.2:g.25007520_25007531dup GRCh38
NC_000023.10:g.25025637_25025648dup , CM000685.1:g.25025637_25025648dup GRCh37
NC_000023.9:g.24935558_24935569dup NCBI36
NG_008281.1:g.13421_13432dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1120-89_1120-78dup MANE Select ENSP00000368332.4:n.1120-89_1120-78dup
ENST00000379044.4:c.1120-89_1120-78dup ENSP00000368332.4:n.1120-89_1120-78dup
NM_139058.2:c.1120-89_1120-78dup NP_620689.1:n.1120-89_1120-78dup
NM_139058.3:c.1120-89_1120-78dup MANE Select NP_620689.1:n.1120-89_1120-78dup
Search 100 bp 5'
Search 100 bp 3'