LDH info

Canonical Allele Identifier: CA272046
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159073
ClinVar RCV Id: RCV000146566
dbSNP Id: rs587783917

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36958183_36958190del , CM000667.2:g.36958183_36958190del GRCh38
NC_000005.9:g.36958285_36958292del , CM000667.1:g.36958285_36958292del GRCh37
NC_000005.8:g.36994042_36994049del NCBI36
NG_006987.1:g.86301_86308del
NG_006987.2:g.86301_86308del

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.310_317del VV NP_056199.2:p.Pro104PhefsTer21
NM_133433.3:c.310_317del VV NP_597677.2:p.Pro104PhefsTer21
XM_005248280.2:c.310_317del XP_005248337.1:p.Pro104PhefsTer21
XM_006714467.2:c.310_317del XP_006714530.1:p.Pro104PhefsTer21
XM_006714468.1:c.310_317del XP_006714531.1:p.Pro104PhefsTer21
XM_011514014.1:c.310_317del XP_011512316.1:p.Pro104PhefsTer21
XM_011514015.1:c.310_317del XP_011512317.1:p.Pro104PhefsTer21
XM_005248280.3:c.310_317del XP_005248337.1:p.Pro104PhefsTer21
XM_006714468.2:c.310_317del XP_006714531.1:p.Pro104PhefsTer21
XM_017009329.1:c.310_317del XP_016864818.1:p.Pro104PhefsTer21
XM_017009331.1:c.310_317del XP_016864820.1:p.Pro104PhefsTer21
NM_133433.4:c.310_317del VV MANE Preferred NP_597677.2:p.Pro104PhefsTer21
NM_015384.5:c.310_317del VV NP_056199.2:p.Pro104PhefsTer21
ENST00000282516.12:c.310_317del ENSP00000282516.8:p.Pro104PhefsTer21
ENST00000448238.2:c.310_317del ENSP00000406266.2:p.Pro104PhefsTer21
ENST00000505998.5:n.289_296del
ENST00000621733.1:c.-1+81161_-1+81168del ENSP00000480694.1:p.=