Canonical Allele Identifier: CA128798
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 29963
ClinVar RCV Id: RCV000022855

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013539_25013565dup , CM000685.2:g.25013539_25013565dup GRCh38
NC_000023.10:g.25031656_25031682dup , CM000685.1:g.25031656_25031682dup GRCh37
NC_000023.9:g.24941577_24941603dup NCBI36
NG_008281.1:g.7389_7415dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.435_461dup MANE Select ENSP00000368332.4:p.Ala154_Ala155insAlaAl...
ENST00000379044.4:c.435_461dup ENSP00000368332.4:p.Ala154_Ala155insAlaAl...
NM_139058.2:c.435_461dup NP_620689.1:p.Ala154_Ala155insAlaAlaAlaAl...
NM_139058.3:c.435_461dup MANE Select NP_620689.1:p.Ala154_Ala155insAlaAlaAlaAl...