Canonical Allele Identifier: CA16616912
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 417933
ClinVar RCV Id: RCV000477851 RCV001092276
dbSNP Id: rs1060499606
MyVariant Identifiers: chr9:g.97934415_97934419del (hg19) chr9:g.95172134_95172138del (hg38) chr9:g.95172133_95172137del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95172135_95172139del , CM000671.2:g.95172135_95172139del GRCh38
NC_000009.11:g.97934417_97934421del , CM000671.1:g.97934417_97934421del GRCh37
NC_000009.10:g.96974238_96974242del NCBI36
NG_011707.1:g.150573_150577del , LRG_497:g.150573_150577del

Transcript Alleles

HGVS Amino-acid change
ENST00000696261.1:n.747_751del
ENST00000289081.8:c.356_360del MANE Select ENSP00000289081.3:p.Ser119TyrfsTer8
ENST00000375305.6:c.356_360del ENSP00000364454.1:p.Ser119TyrfsTer8
ENST00000490972.7:c.356_360del ENSP00000479931.1:p.Ser119TyrfsTer8
ENST00000636777.1:n.414_418del
ENST00000647778.1:c.356_360del ENSP00000498125.1:p.Ser119TyrfsTer8
ENST00000647882.1:c.356_360del ENSP00000497025.1:p.Ser119TyrfsTer8
ENST00000649334.1:c.501_505del ENSP00000497735.1:n.501_505del
ENST00000649701.1:n.71_75del
ENST00000289081.7:c.356_360del ENSP00000289081.3:p.Ser119TyrfsTer8
ENST00000375305.5:c.356_360del ENSP00000364454.1:p.Ser119TyrfsTer8
ENST00000433829.1:c.356_360del ENSP00000406908.1:p.Ser119TyrfsTer8
ENST00000474949.1:n.713_717del
ENST00000490972.6:c.356_360del ENSP00000479931.1:p.Ser119TyrfsTer8
NM_000136.2:c.356_360del , LRG_497t1:c.356_360del NP_000127.2:p.Ser119TyrfsTer8
NM_001243743.1:c.356_360del NP_001230672.1:p.Ser119TyrfsTer8
NM_001243744.1:c.356_360del NP_001230673.1:p.Ser119TyrfsTer8
XM_006717001.1:c.356_360del XP_006717064.1:p.Ser119TyrfsTer8
XM_006717002.2:c.356_360del XP_006717065.1:p.Ser119TyrfsTer8
XM_006717004.2:c.356_360del XP_006717067.1:p.Ser119TyrfsTer8
XM_011518365.1:c.356_360del XP_011516667.1:p.Ser119TyrfsTer8
XM_011518366.1:c.356_360del XP_011516668.1:p.Ser119TyrfsTer8
XM_011518367.1:c.-101_-97del XP_011516669.1:n.-101_-97del
XM_006717001.3:c.356_360del XP_006717064.1:p.Ser119TyrfsTer8
XM_006717002.4:c.356_360del XP_006717065.1:p.Ser119TyrfsTer8
XM_006717004.4:c.356_360del XP_006717067.1:p.Ser119TyrfsTer8
XM_011518365.3:c.356_360del XP_011516667.1:p.Ser119TyrfsTer8
XM_011518366.3:c.356_360del XP_011516668.1:p.Ser119TyrfsTer8
XM_011518367.2:c.-101_-97del XP_011516669.1:n.-101_-97del
XM_017014452.2:c.-101_-97del XP_016869941.1:n.-101_-97del
XM_017014453.1:c.-101_-97del XP_016869942.1:n.-101_-97del
XM_017014454.1:c.-101_-97del XP_016869943.1:n.-101_-97del
XM_024447451.1:c.356_360del XP_024303219.1:p.Ser119TyrfsTer8
NM_000136.3:c.356_360del MANE Select NP_000127.2:p.Ser119TyrfsTer8
NM_001243743.2:c.356_360del NP_001230672.1:p.Ser119TyrfsTer8
NM_001243744.2:c.356_360del NP_001230673.1:p.Ser119TyrfsTer8
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