LDH info

Canonical Allele Identifier: CA224120
Gene: ARX HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 96448
ClinVar RCV Id: RCV000082598
dbSNP Id: rs398124506

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25007409_25007410del , CM000685.2:g.25007409_25007410del GRCh38
NC_000023.10:g.25025526_25025527del , CM000685.1:g.25025526_25025527del GRCh37
NC_000023.9:g.24935447_24935448del NCBI36
NG_008281.1:g.13541_13542del

Transcript Alleles

HGVS Amino-acid change
NM_139058.2:c.1151_1152del VV NP_620689.1:p.Arg384GlnfsTer?
NM_139058.3:c.1151_1152del VV MANE Preferred NP_620689.1:p.Arg384GlnfsTer?
ENST00000379044.4:c.1151_1152del ENSP00000368332.4:p.Arg384GlnfsTer?