LDH info

Canonical Allele Identifier: CA10581462
Gene: IL1RAPL1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 235849
ClinVar RCV Id: RCV000224084
dbSNP Id: rs878853146

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29917579_29917588del , CM000685.2:g.29917579_29917588del GRCh38
NC_000023.10:g.29935696_29935705del , CM000685.1:g.29935696_29935705del GRCh37
NC_000023.9:g.29845617_29845626del NCBI36
NG_008292.1:g.1335016_1335025del
NG_008292.2:g.1335016_1335025del

Transcript Alleles

HGVS Amino-acid change
NM_014271.3:c.894_903del VV NP_055086.1:p.Trp299ThrfsTer18
XM_005274441.1:c.894_903del XP_005274498.1:p.Trp299ThrfsTer18
XM_011545445.1:c.894_903del XP_011543747.1:p.Trp299ThrfsTer18
XM_017029240.1:c.894_903del XP_016884729.1:p.Trp299ThrfsTer18
XM_017029241.1:c.516_525del XP_016884730.1:p.Trp173ThrfsTer18
ENST00000302196.5:n.117_126del ENSP00000305200.5:p.Trp40ThrfsTer18
ENST00000378993.5:c.894_903del ENSP00000368278.1:p.Trp299ThrfsTer18