LDH info

Canonical Allele Identifier: CA213332
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 210331
ClinVar RCV Id: RCV000193636

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013537_25013572dup , CM000685.2:g.25013537_25013572dup GRCh38
NC_000023.10:g.25031654_25031689dup , CM000685.1:g.25031654_25031689dup GRCh37
NC_000023.9:g.24941575_24941610dup NCBI36
NG_008281.1:g.7380_7415dup

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.426_461dup VV NP_620689.1:p.Ala154_Ala155insGlyAlaAlaAl...
NM_139058.3:c.426_461dup VV MANE Preferred NP_620689.1:p.Ala154_Ala155insGlyAlaAlaAl...
ENST00000379044.4:c.426_461dup ENSP00000368332.4:p.Ala154_Ala155insGlyAl...