LDH info

Canonical Allele Identifier: CA163761
Gene: RAD50 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 187444
ClinVar RCV Id: RCV000167173

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132589655_132589656del , CM000667.2:g.132589655_132589656del GRCh38
NC_000005.9:g.131925347_131925348del , CM000667.1:g.131925347_131925348del GRCh37
NC_000005.8:g.131953246_131953247del NCBI36
NG_021151.1:g.37732_37733del
NG_021151.2:g.37679_37680del

Transcript Alleles

HGVS Amino-acid change
NM_005732.3:c.1270_1271del VV NP_005723.2:p.Leu424GlufsTer7
NM_005732.4:c.1270_1271del VV MANE Preferred NP_005723.2:p.Leu424GlufsTer7
ENST00000378823.7:c.1270_1271del ENSP00000368100.4:p.Leu424GlufsTer7
ENST00000423956.5:c.1270_1271del ENSP00000390971.1:p.Leu424GlufsTer7
ENST00000453394.5:c.1270_1271del ENSP00000400049.1:p.Leu424GlufsTer7
ENST00000533482.5:c.*896_*897del ENSP00000431225.1:p.=