LDH info

Canonical Allele Identifier: CA16041450
Gene: ABCC8 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370909
ClinVar RCV Id: RCV000409962
dbSNP Id: rs1057516860

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17428614del , CM000673.2:g.17428614del GRCh38
NC_000011.9:g.17450161del , CM000673.1:g.17450161del GRCh37
NC_000011.8:g.17406737del NCBI36
NG_008867.1:g.53294del

Transcript Alleles

HGVS Amino-acid change
NM_000352.4:c.1879del VV NP_000343.2:p.His627MetfsTer20
NM_001287174.1:c.1879del VV NP_001274103.1:p.His627MetfsTer20
XM_011520331.1:c.1876del XP_011518633.1:p.His626MetfsTer20
XM_011520332.1:c.1879del XP_011518634.1:p.His627MetfsTer20
XM_011520333.1:c.376del XP_011518635.1:p.His126MetfsTer20
XM_011520334.1:c.1879del XP_011518636.1:p.His627MetfsTer20
XR_930890.1:n.1942del
XR_930891.1:n.1942del
XR_930892.1:n.1942del
XR_930893.1:n.1942del
NM_001351295.1:c.1879del VV NP_001338224.1:p.His627MetfsTer?
NM_001351296.1:c.1876del VV NP_001338225.1:p.His626MetfsTer20
NM_001351297.1:c.1876del VV NP_001338226.1:p.His626MetfsTer20
NR_147094.1:n.1945del
XM_017018197.2:c.1879del XP_016873686.1:p.His627MetfsTer?
XM_017018199.1:c.1876del XP_016873688.1:p.His626MetfsTer?
XM_017018201.2:c.1879del XP_016873690.1:p.His627MetfsTer?
XM_017018202.1:c.376del XP_016873691.1:p.His126MetfsTer?
XM_017018204.1:c.-165del XP_016873693.1:p.=
XM_024448668.1:c.244del XP_024304436.1:p.His82MetfsTer20
XR_001747945.2:n.1951del
XR_001747946.2:n.1951del
XR_002957189.1:n.1951del
ENST00000302539.8:c.1879del ENSP00000303960.4:p.His627MetfsTer20
ENST00000389817.7:c.1879del ENSP00000374467.3:p.His627MetfsTer20
ENST00000527905.5:c.1849del ENSP00000431653.1:p.His617MetfsTer20