Canonical Allele Identifier: CA2693353735
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013683-C-CGCCGCCGCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013689_25013697dup , CM000685.2:g.25013689_25013697dup GRCh38
NC_000023.10:g.25031806_25031814dup , CM000685.1:g.25031806_25031814dup GRCh37
NC_000023.9:g.24941727_24941735dup NCBI36
NG_008281.1:g.7257_7265dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.303_311dup MANE Select ENSP00000368332.4:p.Ala104_Ala105insAlaAlaAla
ENST00000379044.4:c.303_311dup ENSP00000368332.4:p.Ala104_Ala105insAlaAlaAla
NM_139058.2:c.303_311dup NP_620689.1:p.Ala104_Ala105insAlaAlaAla
NM_139058.3:c.303_311dup MANE Select NP_620689.1:p.Ala104_Ala105insAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'