Canonical Allele Identifier: CA2695201598
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 2675471
ClinVar RCV Id: RCV003460182

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95172105_95172108del , CM000671.2:g.95172105_95172108del GRCh38
NC_000009.11:g.97934387_97934390del , CM000671.1:g.97934387_97934390del GRCh37
NC_000009.10:g.96974208_96974211del NCBI36
NG_011707.1:g.150604_150607del , LRG_497:g.150604_150607del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.778_781del
ENST00000289081.8:c.387_390del MANE Select ENSP00000289081.3:p.Glu130LeufsTer13
ENST00000375305.6:c.387_390del ENSP00000364454.1:p.Glu130LeufsTer13
ENST00000490972.7:c.387_390del ENSP00000479931.1:p.Glu130LeufsTer13
ENST00000636777.1:n.445_448del
ENST00000647778.1:c.387_390del ENSP00000498125.1:p.Glu130LeufsTer13
ENST00000647882.1:c.387_390del ENSP00000497025.1:p.Glu130LeufsTer?
ENST00000649334.1:c.532_535del ENSP00000497735.1:n.532_535del
ENST00000649701.1:n.102_105del
ENST00000289081.7:c.387_390del ENSP00000289081.3:p.Glu130LeufsTer13
ENST00000375305.5:c.387_390del ENSP00000364454.1:p.Glu130LeufsTer13
ENST00000433829.1:c.387_390del ENSP00000406908.1:p.Glu130LeufsTer13
ENST00000474949.1:n.744_747del
ENST00000490972.6:c.387_390del ENSP00000479931.1:p.Glu130LeufsTer13
NM_000136.2:c.387_390del , LRG_497t1:c.387_390del NP_000127.2:p.Glu130LeufsTer13
NM_001243743.1:c.387_390del NP_001230672.1:p.Glu130LeufsTer13
NM_001243744.1:c.387_390del NP_001230673.1:p.Glu130LeufsTer13
XM_006717001.1:c.387_390del XP_006717064.1:p.Glu130LeufsTer13
XM_006717002.2:c.387_390del XP_006717065.1:p.Glu130LeufsTer13
XM_006717004.2:c.387_390del XP_006717067.1:p.Glu130LeufsTer13
XM_011518365.1:c.387_390del XP_011516667.1:p.Glu130LeufsTer13
XM_011518366.1:c.387_390del XP_011516668.1:p.Glu130LeufsTer13
XM_011518367.1:c.-70_-67del XP_011516669.1:n.-70_-67del
XM_006717001.3:c.387_390del XP_006717064.1:p.Glu130LeufsTer13
XM_006717002.4:c.387_390del XP_006717065.1:p.Glu130LeufsTer13
XM_006717004.4:c.387_390del XP_006717067.1:p.Glu130LeufsTer13
XM_011518365.3:c.387_390del XP_011516667.1:p.Glu130LeufsTer13
XM_011518366.3:c.387_390del XP_011516668.1:p.Glu130LeufsTer13
XM_011518367.2:c.-70_-67del XP_011516669.1:n.-70_-67del
XM_017014452.2:c.-70_-67del XP_016869941.1:n.-70_-67del
XM_017014453.1:c.-70_-67del XP_016869942.1:n.-70_-67del
XM_017014454.1:c.-70_-67del XP_016869943.1:n.-70_-67del
XM_024447451.1:c.387_390del XP_024303219.1:p.Glu130LeufsTer13
NM_000136.3:c.387_390del MANE Select NP_000127.2:p.Glu130LeufsTer13
NM_001243743.2:c.387_390del NP_001230672.1:p.Glu130LeufsTer13
NM_001243744.2:c.387_390del NP_001230673.1:p.Glu130LeufsTer13