Canonical Allele Identifier: CA16621352
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 424509
ClinVar RCV Id: RCV000484667
dbSNP Id: rs1556056354

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013650_25013691dup , CM000685.2:g.25013650_25013691dup GRCh38
NC_000023.10:g.25031767_25031808dup , CM000685.1:g.25031767_25031808dup GRCh37
NC_000023.9:g.24941688_24941729dup NCBI36
NG_008281.1:g.7258_7299dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.304_345dup MANE Select ENSP00000368332.4:p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000379044.4:c.304_345dup ENSP00000368332.4:p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_139058.2:c.304_345dup NP_620689.1:p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_139058.3:c.304_345dup MANE Select NP_620689.1:p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA...