LDH info

Canonical Allele Identifier: CA215969
Gene: F5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 56159
ClinVar RCV Id: RCV000049569
dbSNP Id: rs386834226

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541904dup , CM000663.2:g.169541904dup GRCh38
NC_000001.10:g.169511142dup , CM000663.1:g.169511142dup GRCh37
NC_000001.9:g.167777766dup NCBI36
NG_011806.1:g.49629dup , LRG_553:g.49629dup

Transcript Alleles

HGVS Amino-acid change
NM_000130.4:c.3187dup , LRG_553t1:c.3187dup NP_000121.2:p.Arg1063LysfsTer3
XM_017000660.2:c.2776dup XP_016856149.1:p.Arg926LysfsTer3
NM_000130.5:c.3187dup VV MANE Preferred NP_000121.2:p.Arg1063LysfsTer3
ENST00000367796.3:c.3202dup ENSP00000356770.3:p.Arg1068LysfsTer3
ENST00000367797.7:c.3187dup ENSP00000356771.3:p.Arg1063LysfsTer3