LDH info

Canonical Allele Identifier: CA252117
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2144
ClinVar RCV Id: RCV000002226
dbSNP Id: rs121918266

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37001030_37001032del , CM000667.2:g.37001030_37001032del GRCh38
NC_000005.9:g.37001132_37001134del , CM000667.1:g.37001132_37001134del GRCh37
NC_000005.8:g.37036889_37036891del NCBI36
NG_006987.1:g.129148_129150del
NG_006987.2:g.129148_129150del

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.3616_3618del VV NP_056199.2:p.Ile1206del
NM_133433.3:c.3616_3618del VV NP_597677.2:p.Ile1206del
XM_005248280.2:c.3616_3618del XP_005248337.1:p.Ile1206del
XM_005248282.3:c.2872_2874del XP_005248339.2:p.Ile958del
XM_006714467.2:c.3616_3618del XP_006714530.1:p.Ile1206del
XM_006714468.1:c.3418_3420del XP_006714531.1:p.Ile1140del
XM_011514014.1:c.3235_3237del XP_011512316.1:p.Ile1079del
XM_011514015.1:c.3616_3618del XP_011512317.1:p.Ile1206del
XM_005248280.3:c.3616_3618del XP_005248337.1:p.Ile1206del
XM_005248282.5:c.2956_2958del XP_005248339.3:p.Ile986del
XM_006714468.2:c.3418_3420del XP_006714531.1:p.Ile1140del
XM_017009329.1:c.3616_3618del XP_016864818.1:p.Ile1206del
XM_017009330.2:c.1999_2001del XP_016864819.1:p.Ile667del
XM_017009331.1:c.1990_1992del XP_016864820.1:p.Ile664del
NM_133433.4:c.3616_3618del VV MANE Preferred NP_597677.2:p.Ile1206del
NM_015384.5:c.3616_3618del VV NP_056199.2:p.Ile1206del
ENST00000282516.12:c.3616_3618del ENSP00000282516.8:p.Ile1206del
ENST00000448238.2:c.3616_3618del ENSP00000406266.2:p.Ile1206del
ENST00000621733.1:c.1-63548_1-63546del ENSP00000480694.1:p.=