Canonical Allele Identifier: CA2697557884
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 2743066
ClinVar RCV Id: RCV003523646

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95249152_95249165del , CM000671.2:g.95249152_95249165del GRCh38
NC_000009.11:g.98011434_98011447del , CM000671.1:g.98011434_98011447del GRCh37
NC_000009.10:g.97051255_97051268del NCBI36
NG_011707.1:g.73547_73560del , LRG_497:g.73547_73560del

Transcript Alleles

HGVS Amino-acid change
ENST00000696261.1:n.375_388del
ENST00000696262.1:c.129_142del ENSP00000512510.1:p.Glu43AspfsTer3
ENST00000696263.1:n.384_397del
ENST00000289081.8:c.129_142del MANE Select ENSP00000289081.3:p.Glu43AspfsTer3
ENST00000375305.6:c.129_142del ENSP00000364454.1:p.Glu43AspfsTer3
ENST00000490972.7:c.129_142del ENSP00000479931.1:p.Glu43AspfsTer3
ENST00000636777.1:n.187_200del
ENST00000647778.1:c.129_142del ENSP00000498125.1:p.Glu43AspfsTer3
ENST00000647882.1:c.129_142del ENSP00000497025.1:p.Glu43AspfsTer3
ENST00000648415.1:n.1767_1780del
ENST00000649334.1:c.129_142del ENSP00000497735.1:p.Glu43AspfsTer3
ENST00000649519.1:c.129_142del ENSP00000497630.1:p.Glu43AspfsTer3
ENST00000649611.1:c.129_142del ENSP00000497986.1:p.Glu43AspfsTer3
ENST00000649872.1:c.129_142del ENSP00000497195.1:p.Glu43AspfsTer3
ENST00000650176.1:n.309_322del
ENST00000289081.7:c.129_142del ENSP00000289081.3:p.Glu43AspfsTer3
ENST00000375305.5:c.129_142del ENSP00000364454.1:p.Glu43AspfsTer3
ENST00000433829.1:c.129_142del ENSP00000406908.1:p.Glu43AspfsTer3
ENST00000474949.1:n.391_404del
ENST00000490972.6:c.129_142del ENSP00000479931.1:p.Glu43AspfsTer3
NM_000136.2:c.129_142del , LRG_497t1:c.129_142del NP_000127.2:p.Glu43AspfsTer3
NM_001243743.1:c.129_142del NP_001230672.1:p.Glu43AspfsTer3
NM_001243744.1:c.129_142del NP_001230673.1:p.Glu43AspfsTer3
XM_006717001.1:c.129_142del XP_006717064.1:p.Glu43AspfsTer3
XM_006717002.2:c.129_142del XP_006717065.1:p.Glu43AspfsTer3
XM_006717004.2:c.129_142del XP_006717067.1:p.Glu43AspfsTer3
XM_011518365.1:c.129_142del XP_011516667.1:p.Glu43AspfsTer3
XM_011518366.1:c.129_142del XP_011516668.1:p.Glu43AspfsTer3
XM_011518367.1:c.-473_-460del XP_011516669.1:n.-473_-460del
XM_006717001.3:c.129_142del XP_006717064.1:p.Glu43AspfsTer3
XM_006717002.4:c.129_142del XP_006717065.1:p.Glu43AspfsTer3
XM_006717004.4:c.129_142del XP_006717067.1:p.Glu43AspfsTer3
XM_011518365.3:c.129_142del XP_011516667.1:p.Glu43AspfsTer3
XM_011518366.3:c.129_142del XP_011516668.1:p.Glu43AspfsTer3
XM_011518367.2:c.-473_-460del XP_011516669.1:n.-473_-460del
XM_017014452.2:c.-473_-460del XP_016869941.1:n.-473_-460del
XM_017014453.1:c.-473_-460del XP_016869942.1:n.-473_-460del
XM_017014454.1:c.-473_-460del XP_016869943.1:n.-473_-460del
XM_024447451.1:c.129_142del XP_024303219.1:p.Glu43AspfsTer3
NM_000136.3:c.129_142del MANE Select NP_000127.2:p.Glu43AspfsTer3
NM_001243743.2:c.129_142del NP_001230672.1:p.Glu43AspfsTer3
NM_001243744.2:c.129_142del NP_001230673.1:p.Glu43AspfsTer3