LDH info

Canonical Allele Identifier: CA272039
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159070
dbSNP Id: rs587783914

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36986240_36986243del , CM000667.2:g.36986240_36986243del GRCh38
NC_000005.9:g.36986342_36986345del , CM000667.1:g.36986342_36986345del GRCh37
NC_000005.8:g.37022099_37022102del NCBI36
NG_006987.1:g.114358_114361del
NG_006987.2:g.114358_114361del

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.3060_3063del VV NP_056199.2:p.Glu1021ThrfsTer22
NM_133433.3:c.3060_3063del VV NP_597677.2:p.Glu1021ThrfsTer22
XM_005248280.2:c.3060_3063del XP_005248337.1:p.Glu1021ThrfsTer22
XM_005248282.3:c.2316_2319del XP_005248339.2:p.Glu773ThrfsTer22
XM_006714467.2:c.3060_3063del XP_006714530.1:p.Glu1021ThrfsTer22
XM_006714468.1:c.3060_3063del XP_006714531.1:p.Glu1021ThrfsTer22
XM_011514014.1:c.3060_3063del XP_011512316.1:p.Glu1021ThrfsTer24
XM_011514015.1:c.3060_3063del XP_011512317.1:p.Glu1021ThrfsTer22
XM_005248280.3:c.3060_3063del XP_005248337.1:p.Glu1021ThrfsTer22
XM_005248282.5:c.2400_2403del XP_005248339.3:p.Glu801ThrfsTer22
XM_006714468.2:c.3060_3063del XP_006714531.1:p.Glu1021ThrfsTer22
XM_017009329.1:c.3060_3063del XP_016864818.1:p.Glu1021ThrfsTer22
XM_017009330.2:c.1443_1446del XP_016864819.1:p.Glu482ThrfsTer22
XM_017009331.1:c.1496-9382_1496-9379del XP_016864820.1:p.=
NM_133433.4:c.3060_3063del VV MANE Preferred NP_597677.2:p.Glu1021ThrfsTer22
NM_015384.5:c.3060_3063del VV NP_056199.2:p.Glu1021ThrfsTer22
ENST00000282516.12:c.3060_3063del ENSP00000282516.8:p.Glu1021ThrfsTer22
ENST00000448238.2:c.3060_3063del ENSP00000406266.2:p.Glu1021ThrfsTer22
ENST00000504430.5:n.2680_2683del
ENST00000621733.1:c.1-78338_1-78335del ENSP00000480694.1:p.=