LDH info

Canonical Allele Identifier: CA559295099
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1265331703

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995607_36995609del , CM000667.2:g.36995607_36995609del GRCh38
NC_000005.9:g.36995709_36995711del , CM000667.1:g.36995709_36995711del GRCh37
NC_000005.8:g.37031466_37031468del NCBI36
NG_006987.1:g.123725_123727del
NG_006987.2:g.123725_123727del

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.3122-15_3122-13del VV NP_056199.2:p.=
NM_133433.3:c.3122-15_3122-13del VV NP_597677.2:p.=
XM_005248280.2:c.3122-15_3122-13del XP_005248337.1:p.=
XM_005248282.3:c.2378-15_2378-13del XP_005248339.2:p.=
XM_006714467.2:c.3122-15_3122-13del XP_006714530.1:p.=
XM_006714468.1:c.3122-15_3122-13del XP_006714531.1:p.=
XM_011514014.1:c.3122-5210_3122-5208del XP_011512316.1:p.=
XM_011514015.1:c.3122-15_3122-13del XP_011512317.1:p.=
XM_005248280.3:c.3122-15_3122-13del XP_005248337.1:p.=
XM_005248282.5:c.2462-15_2462-13del XP_005248339.3:p.=
XM_006714468.2:c.3122-15_3122-13del XP_006714531.1:p.=
XM_017009329.1:c.3122-15_3122-13del XP_016864818.1:p.=
XM_017009330.2:c.1505-15_1505-13del XP_016864819.1:p.=
XM_017009331.1:c.1496-15_1496-13del XP_016864820.1:p.=
NM_133433.4:c.3122-15_3122-13del VV MANE Preferred NP_597677.2:p.=
NM_015384.5:c.3122-15_3122-13del VV NP_056199.2:p.=
ENST00000282516.12:c.3122-15_3122-13del ENSP00000282516.8:p.=
ENST00000448238.2:c.3122-15_3122-13del ENSP00000406266.2:p.=
ENST00000503274.1:n.458_460del
ENST00000504430.5:n.2742-15_2742-13del
ENST00000621733.1:c.1-68971_1-68969del ENSP00000480694.1:p.=