LDH info

Canonical Allele Identifier: CA272001
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 159047
ClinVar RCV Id: RCV000146536
dbSNP Id: rs587783897

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36985287_36985288del , CM000667.2:g.36985287_36985288del GRCh38
NC_000005.9:g.36985389_36985390del , CM000667.1:g.36985389_36985390del GRCh37
NC_000005.8:g.37021146_37021147del NCBI36
NG_006987.1:g.113405_113406del
NG_006987.2:g.113405_113406del

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.2107_2108del VV NP_056199.2:p.Pro703LysfsTer5
NM_133433.3:c.2107_2108del VV NP_597677.2:p.Pro703LysfsTer5
XM_005248280.2:c.2107_2108del XP_005248337.1:p.Pro703LysfsTer5
XM_005248282.3:c.1363_1364del XP_005248339.2:p.Pro455LysfsTer5
XM_006714467.2:c.2107_2108del XP_006714530.1:p.Pro703LysfsTer5
XM_006714468.1:c.2107_2108del XP_006714531.1:p.Pro703LysfsTer5
XM_011514014.1:c.2107_2108del XP_011512316.1:p.Pro703LysfsTer5
XM_011514015.1:c.2107_2108del XP_011512317.1:p.Pro703LysfsTer5
XM_005248280.3:c.2107_2108del XP_005248337.1:p.Pro703LysfsTer5
XM_005248282.5:c.1447_1448del XP_005248339.3:p.Pro483LysfsTer5
XM_006714468.2:c.2107_2108del XP_006714531.1:p.Pro703LysfsTer5
XM_017009329.1:c.2107_2108del XP_016864818.1:p.Pro703LysfsTer5
XM_017009330.2:c.490_491del XP_016864819.1:p.Pro164LysfsTer5
XM_017009331.1:c.1495+8885_1495+8886del XP_016864820.1:p.=
NM_133433.4:c.2107_2108del VV MANE Preferred NP_597677.2:p.Pro703LysfsTer5
ENST00000282516.12:c.2107_2108del ENSP00000282516.8:p.Pro703LysfsTer5
ENST00000448238.2:c.2107_2108del ENSP00000406266.2:p.Pro703LysfsTer5
ENST00000504430.5:n.1727_1728del
ENST00000621733.1:c.1-79291_1-79290del ENSP00000480694.1:p.=