LDH info

Canonical Allele Identifier: CA271956
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159025
ClinVar RCV Id: RCV000146510
dbSNP Id: rs587783878

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36975940_36975943del , CM000667.2:g.36975940_36975943del GRCh38
NC_000005.9:g.36976042_36976045del , CM000667.1:g.36976042_36976045del GRCh37
NC_000005.8:g.37011799_37011802del NCBI36
NG_006987.1:g.104058_104061del
NG_006987.2:g.104058_104061del

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.1033_1036del VV NP_056199.2:p.Tyr345IlefsTer2
NM_133433.3:c.1033_1036del VV NP_597677.2:p.Tyr345IlefsTer2
XM_005248280.2:c.1033_1036del XP_005248337.1:p.Tyr345IlefsTer2
XM_005248282.3:c.289_292del XP_005248339.2:p.Tyr97IlefsTer2
XM_006714467.2:c.1033_1036del XP_006714530.1:p.Tyr345IlefsTer2
XM_006714468.1:c.1033_1036del XP_006714531.1:p.Tyr345IlefsTer2
XM_011514014.1:c.1033_1036del XP_011512316.1:p.Tyr345IlefsTer2
XM_011514015.1:c.1033_1036del XP_011512317.1:p.Tyr345IlefsTer2
XM_005248280.3:c.1033_1036del XP_005248337.1:p.Tyr345IlefsTer2
XM_005248282.5:c.373_376del XP_005248339.3:p.Tyr125IlefsTer2
XM_006714468.2:c.1033_1036del XP_006714531.1:p.Tyr345IlefsTer2
XM_017009329.1:c.1033_1036del XP_016864818.1:p.Tyr345IlefsTer2
XM_017009331.1:c.1033_1036del XP_016864820.1:p.Tyr345IlefsTer2
NM_133433.4:c.1033_1036del VV MANE Preferred NP_597677.2:p.Tyr345IlefsTer2
NM_015384.5:c.1033_1036del VV NP_056199.2:p.Tyr345IlefsTer2
ENST00000282516.12:c.1033_1036del ENSP00000282516.8:p.Tyr345IlefsTer2
ENST00000448238.2:c.1033_1036del ENSP00000406266.2:p.Tyr345IlefsTer2
ENST00000504430.5:n.653_656del
ENST00000621733.1:c.1-88638_1-88635del ENSP00000480694.1:p.=