LDH info

Canonical Allele Identifier: CA299130
Gene: FANCC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 182465
dbSNP Id: rs730881708

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95171113_95171116del , CM000671.2:g.95171113_95171116del GRCh38
NC_000009.11:g.97933395_97933398del , CM000671.1:g.97933395_97933398del GRCh37
NC_000009.10:g.96973216_96973219del NCBI36
NG_011707.1:g.151597_151600del , LRG_497:g.151597_151600del

Transcript Alleles

HGVS Amino-acid change
NM_000136.2:c.487_490del , LRG_497t1:c.487_490del NP_000127.2:p.Glu163IlefsTer30
NM_001243743.1:c.487_490del VV NP_001230672.1:p.Glu163IlefsTer30
NM_001243744.1:c.487_490del VV NP_001230673.1:p.Glu163IlefsTer30
XM_006717001.1:c.487_490del XP_006717064.1:p.Glu163IlefsTer21
XM_006717002.2:c.487_490del XP_006717065.1:p.Glu163IlefsTer30
XM_006717004.2:c.487_490del XP_006717067.1:p.Glu163IlefsTer30
XM_011518365.1:c.487_490del XP_011516667.1:p.Glu163IlefsTer30
XM_011518366.1:c.487_490del XP_011516668.1:p.Glu163IlefsTer30
XM_011518367.1:c.31_34del XP_011516669.1:p.Glu11IlefsTer30
XM_006717001.3:c.487_490del XP_006717064.1:p.Glu163IlefsTer21
XM_006717002.4:c.487_490del XP_006717065.1:p.Glu163IlefsTer30
XM_006717004.4:c.487_490del XP_006717067.1:p.Glu163IlefsTer30
XM_011518365.3:c.487_490del XP_011516667.1:p.Glu163IlefsTer30
XM_011518366.3:c.487_490del XP_011516668.1:p.Glu163IlefsTer30
XM_011518367.2:c.31_34del XP_011516669.1:p.Glu11IlefsTer30
XM_017014452.2:c.31_34del XP_016869941.1:p.Glu11IlefsTer30
XM_017014453.1:c.31_34del XP_016869942.1:p.Glu11IlefsTer30
XM_017014454.1:c.31_34del XP_016869943.1:p.Glu11IlefsTer21
XM_024447451.1:c.487_490del XP_024303219.1:p.Glu163IlefsTer30
NM_000136.3:c.487_490del VV NP_000127.2:p.Glu163IlefsTer30
ENST00000289081.7:c.487_490del ENSP00000289081.3:p.Glu163IlefsTer30
ENST00000375305.5:c.487_490del ENSP00000364454.1:p.Glu163IlefsTer30
ENST00000490972.6:c.487_490del ENSP00000479931.1:p.Glu163IlefsTer30