Canonical Allele Identifier: CA1865464008

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.95111057_95111084delinsGGGCTGCTGGGGAGCGAGACAGGGCCCT , CM000671.2:g.95111057_95111084delinsGGGCTGCTGGGGAGCGAGACAGGGCCCT GRCh38
NC_000009.11:g.97873339_97873366delinsGGGCTGCTGGGGAGCGAGACAGGGCCCT , CM000671.1:g.97873339_97873366delinsGGGCTGCTGGGGAGCGAGACAGGGCCCT GRCh37
NC_000009.10:g.96913160_96913187delinsGGGCTGCTGGGGAGCGAGACAGGGCCCT NCBI36
NG_011707.1:g.211626_211653delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC , LRG_497:g.211626_211653delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000710812.1:n.410+30277_410+30304delinsGGGCTGCTGGGGAGCGAGACAGGGCCCT (AOPEP)
ENST00000696260.1:n.2144+379_2144+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC)
ENST00000289081.8:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) MANE Select ENSP00000289081.3:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCC...
ENST00000375305.6:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) ENSP00000364454.1:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCC...
ENST00000490972.7:c.*112_*139delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) ENSP00000479931.1:n.*112_*139delinsAGGGCCCTGTCTCGCTCCCCAGCAGC...
ENST00000649334.1:c.1474+379_1474+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) ENSP00000497735.1:n.1474+379_1474+406delinsAGGGCCCTGTCTCGCTCC...
ENST00000289081.7:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) ENSP00000289081.3:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCC...
ENST00000375305.5:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) ENSP00000364454.1:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCC...
ENST00000464627.5:n.656+379_656+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC)
ENST00000477942.5:n.684+379_684+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC)
ENST00000480712.5:n.514+379_514+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC)
ENST00000490972.6:c.*112_*139delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) ENSP00000479931.1:n.*112_*139delinsAGGGCCCTGTCTCGCTCCCCAGCAGC...
NM_000136.2:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC , LRG_497t1:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) NP_000127.2:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCA...
NM_001243743.1:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) NP_001230672.1:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCA...
NM_001243744.1:c.*112_*139delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) NP_001230673.1:n.*112_*139delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC
XM_005251802.2:c.648+379_648+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_005251859.1:n.648+379_648+406delinsAGGGCCCTGTCTCGCTCCCCAGC...
XM_006717001.1:c.1164+379_1164+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_006717064.1:n.1164+379_1164+406delinsAGGGCCCTGTCTCGCTCCCCA...
XM_006717002.2:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_006717065.1:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCA...
XM_011518365.1:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_011516667.1:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCA...
XM_011518367.1:c.873+379_873+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_011516669.1:n.873+379_873+406delinsAGGGCCCTGTCTCGCTCCCCAGC...
XM_011519121.1:c.2319+30277_2319+30304delinsGGGCTGCTGGGGAGCGAGACAGGGCCCT (AOPEP) XP_011517423.1:n.2319+30277_2319+30304delinsGGGCTGCTGGGGAGCGA...
XM_005251802.3:c.648+379_648+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_005251859.1:n.648+379_648+406delinsAGGGCCCTGTCTCGCTCCCCAGC...
XM_006717001.3:c.1164+379_1164+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_006717064.1:n.1164+379_1164+406delinsAGGGCCCTGTCTCGCTCCCCA...
XM_006717002.4:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_006717065.1:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCA...
XM_011518365.3:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_011516667.1:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCA...
XM_011518366.3:c.*227_*254delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_011516668.1:n.*227_*254delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC
XM_011518367.2:c.873+379_873+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_011516669.1:n.873+379_873+406delinsAGGGCCCTGTCTCGCTCCCCAGC...
XM_011519121.3:c.2319+30277_2319+30304delinsGGGCTGCTGGGGAGCGAGACAGGGCCCT (AOPEP) XP_011517423.1:n.2319+30277_2319+30304delinsGGGCTGCTGGGGAGCGA...
XM_017014452.2:c.873+379_873+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_016869941.1:n.873+379_873+406delinsAGGGCCCTGTCTCGCTCCCCAGC...
XM_017014453.1:c.873+379_873+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_016869942.1:n.873+379_873+406delinsAGGGCCCTGTCTCGCTCCCCAGC...
XM_017014454.1:c.708+379_708+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_016869943.1:n.708+379_708+406delinsAGGGCCCTGTCTCGCTCCCCAGC...
XM_024447451.1:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) XP_024303219.1:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCA...
NM_000136.3:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) MANE Select NP_000127.2:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCA...
NM_001243743.2:c.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) NP_001230672.1:n.1329+379_1329+406delinsAGGGCCCTGTCTCGCTCCCCA...
NM_001243744.2:c.*112_*139delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC (FANCC) NP_001230673.1:n.*112_*139delinsAGGGCCCTGTCTCGCTCCCCAGCAGCCC