LDH info

Canonical Allele Identifier: CA917452565
Gene: NIPBL HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs148066104

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995595_36995600dup , CM000667.2:g.36995595_36995600dup GRCh38
NC_000005.9:g.36995697_36995702dup , CM000667.1:g.36995697_36995702dup GRCh37
NC_000005.8:g.37031454_37031459dup NCBI36
NG_006987.1:g.123713_123718dup
NG_006987.2:g.123713_123718dup

Transcript Alleles

HGVS Amino-acid change
NM_015384.4:c.3122-27_3122-22dup VV NP_056199.2:p.=
NM_133433.3:c.3122-27_3122-22dup VV NP_597677.2:p.=
XM_005248280.2:c.3122-27_3122-22dup XP_005248337.1:p.=
XM_005248282.3:c.2378-27_2378-22dup XP_005248339.2:p.=
XM_006714467.2:c.3122-27_3122-22dup XP_006714530.1:p.=
XM_006714468.1:c.3122-27_3122-22dup XP_006714531.1:p.=
XM_011514014.1:c.3122-5222_3122-5217dup XP_011512316.1:p.=
XM_011514015.1:c.3122-27_3122-22dup XP_011512317.1:p.=
XM_005248280.3:c.3122-27_3122-22dup XP_005248337.1:p.=
XM_005248282.5:c.2462-27_2462-22dup XP_005248339.3:p.=
XM_006714468.2:c.3122-27_3122-22dup XP_006714531.1:p.=
XM_017009329.1:c.3122-27_3122-22dup XP_016864818.1:p.=
XM_017009330.2:c.1505-27_1505-22dup XP_016864819.1:p.=
XM_017009331.1:c.1496-27_1496-22dup XP_016864820.1:p.=
NM_133433.4:c.3122-27_3122-22dup VV MANE Preferred NP_597677.2:p.=
NM_015384.5:c.3122-27_3122-22dup VV NP_056199.2:p.=
ENST00000282516.12:c.3122-27_3122-22dup ENSP00000282516.8:p.=
ENST00000448238.2:c.3122-27_3122-22dup ENSP00000406266.2:p.=
ENST00000503274.1:n.446_451dup
ENST00000504430.5:n.2742-27_2742-22dup
ENST00000621733.1:c.1-68983_1-68978dup ENSP00000480694.1:p.=