Canonical Allele Identifier: CA2580080707
Gene: FANCC HGNC NCBI

Linked Data

ClinVar Variation Id: 2021674
ClinVar RCV Id: RCV002847200

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95249236_95249243del , CM000671.2:g.95249236_95249243del GRCh38
NC_000009.11:g.98011518_98011525del , CM000671.1:g.98011518_98011525del GRCh37
NC_000009.10:g.97051339_97051346del NCBI36
NG_011707.1:g.73467_73474del , LRG_497:g.73467_73474del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696261.1:n.295_302del
ENST00000696262.1:c.49_56del ENSP00000512510.1:p.Gln17PhefsTer?
ENST00000696263.1:n.304_311del
ENST00000289081.8:c.49_56del MANE Select ENSP00000289081.3:p.Gln17PhefsTer?
ENST00000375305.6:c.49_56del ENSP00000364454.1:p.Gln17PhefsTer?
ENST00000490972.7:c.49_56del ENSP00000479931.1:p.Gln17PhefsTer?
ENST00000636777.1:n.107_114del
ENST00000647778.1:c.49_56del ENSP00000498125.1:p.Gln17PhefsTer?
ENST00000647882.1:c.49_56del ENSP00000497025.1:p.Gln17PhefsTer?
ENST00000648415.1:n.1687_1694del
ENST00000649334.1:c.49_56del ENSP00000497735.1:p.Gln17PhefsTer?
ENST00000649519.1:c.49_56del ENSP00000497630.1:p.Gln17PhefsTer?
ENST00000649611.1:c.49_56del ENSP00000497986.1:p.Gln17PhefsTer?
ENST00000649872.1:c.49_56del ENSP00000497195.1:p.Gln17PhefsTer?
ENST00000650176.1:n.229_236del
ENST00000289081.7:c.49_56del ENSP00000289081.3:p.Gln17PhefsTer?
ENST00000375305.5:c.49_56del ENSP00000364454.1:p.Gln17PhefsTer?
ENST00000433829.1:c.49_56del ENSP00000406908.1:p.Gln17PhefsTer?
ENST00000474949.1:n.311_318del
ENST00000490972.6:c.49_56del ENSP00000479931.1:p.Gln17PhefsTer?
NM_000136.2:c.49_56del , LRG_497t1:c.49_56del NP_000127.2:p.Gln17PhefsTer?
NM_001243743.1:c.49_56del NP_001230672.1:p.Gln17PhefsTer?
NM_001243744.1:c.49_56del NP_001230673.1:p.Gln17PhefsTer?
XM_006717001.1:c.49_56del XP_006717064.1:p.Gln17PhefsTer?
XM_006717002.2:c.49_56del XP_006717065.1:p.Gln17PhefsTer?
XM_006717004.2:c.49_56del XP_006717067.1:p.Gln17PhefsTer?
XM_011518365.1:c.49_56del XP_011516667.1:p.Gln17PhefsTer?
XM_011518366.1:c.49_56del XP_011516668.1:p.Gln17PhefsTer?
XM_011518367.1:c.-553_-546del XP_011516669.1:n.-553_-546del
XM_006717001.3:c.49_56del XP_006717064.1:p.Gln17PhefsTer?
XM_006717002.4:c.49_56del XP_006717065.1:p.Gln17PhefsTer?
XM_006717004.4:c.49_56del XP_006717067.1:p.Gln17PhefsTer?
XM_011518365.3:c.49_56del XP_011516667.1:p.Gln17PhefsTer?
XM_011518366.3:c.49_56del XP_011516668.1:p.Gln17PhefsTer?
XM_011518367.2:c.-553_-546del XP_011516669.1:n.-553_-546del
XM_017014452.2:c.-553_-546del XP_016869941.1:n.-553_-546del
XM_017014453.1:c.-553_-546del XP_016869942.1:n.-553_-546del
XM_017014454.1:c.-553_-546del XP_016869943.1:n.-553_-546del
XM_024447451.1:c.49_56del XP_024303219.1:p.Gln17PhefsTer?
NM_000136.3:c.49_56del MANE Select NP_000127.2:p.Gln17PhefsTer?
NM_001243743.2:c.49_56del NP_001230672.1:p.Gln17PhefsTer?
NM_001243744.2:c.49_56del NP_001230673.1:p.Gln17PhefsTer?