Canonical Allele Identifier: CA2671741622
Gene: CFI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109741142_109741143del , CM000666.2:g.109741142_109741143del GRCh38
NC_000004.11:g.110662298_110662299del , CM000666.1:g.110662298_110662299del GRCh37
NC_000004.10:g.110881747_110881748del NCBI36
NG_007569.1:g.65847_65848del , LRG_48:g.65847_65848del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1713+1352_1713+1353del
ENST00000695845.1:n.1712+1352_1712+1353del
ENST00000695846.1:n.1559-29_1559-28del
ENST00000394634.7:c.1535-29_1535-28del MANE Select ENSP00000378130.2:n.1535-29_1535-28del
ENST00000394635.8:c.1559-29_1559-28del ENSP00000378131.3:n.1559-29_1559-28del
ENST00000645635.1:c.1534+1352_1534+1353del ENSP00000493607.1:n.1534+1352_1534+1353del
ENST00000394634.6:c.1535-29_1535-28del ENSP00000378130.2:n.1535-29_1535-28del
ENST00000394635.7:c.1559-29_1559-28del ENSP00000378131.3:n.1559-29_1559-28del
ENST00000504853.3:n.1952-29_1952-28del
ENST00000512148.5:c.1514-29_1514-28del ENSP00000427438.1:n.1514-29_1514-28del
ENST00000618244.4:c.1045-334_1045-333del ENSP00000483416.1:n.1045-334_1045-333del
NM_000204.3:c.1535-29_1535-28del , LRG_48t1:c.1535-29_1535-28del NP_000195.2:n.1535-29_1535-28del
XM_005262975.1:c.1559-29_1559-28del XP_005263032.1:n.1559-29_1559-28del
XM_005262976.1:c.1514-29_1514-28del XP_005263033.1:n.1514-29_1514-28del
XM_006714209.1:c.1556-29_1556-28del XP_006714272.1:n.1556-29_1556-28del
XM_011531920.1:c.1558+1352_1558+1353del XP_011530222.1:n.1558+1352_1558+1353del
NM_000204.4:c.1535-29_1535-28del NP_000195.2:n.1535-29_1535-28del
NM_001318057.1:c.1559-29_1559-28del NP_001304986.1:n.1559-29_1559-28del
NM_001331035.1:c.1514-29_1514-28del NP_001317964.1:n.1514-29_1514-28del
XM_011531920.2:c.1558+1352_1558+1353del XP_011530222.1:n.1558+1352_1558+1353del
XM_017008164.2:c.1534+1352_1534+1353del XP_016863653.1:n.1534+1352_1534+1353del
XM_017008165.2:c.1513+1352_1513+1353del XP_016863654.1:n.1513+1352_1513+1353del
XM_017008166.2:c.1534+1352_1534+1353del XP_016863655.1:n.1534+1352_1534+1353del
NM_001318057.2:c.1559-29_1559-28del NP_001304986.2:n.1559-29_1559-28del
NM_001331035.2:c.1514-29_1514-28del NP_001317964.1:n.1514-29_1514-28del
NM_001375278.1:c.1558+1352_1558+1353del NP_001362207.1:n.1558+1352_1558+1353del
NM_001375279.1:c.1534+1352_1534+1353del NP_001362208.1:n.1534+1352_1534+1353del
NM_001375280.1:c.1513+1352_1513+1353del NP_001362209.1:n.1513+1352_1513+1353del
NM_001375281.1:c.1534+1352_1534+1353del NP_001362210.1:n.1534+1352_1534+1353del
NM_001375282.1:c.1513+1352_1513+1353del NP_001362211.1:n.1513+1352_1513+1353del
NM_001375283.1:c.1478-29_1478-28del NP_001362212.1:n.1478-29_1478-28del
NM_001375284.1:c.926-29_926-28del NP_001362213.1:n.926-29_926-28del
NR_164671.1:n.1282-29_1282-28del
NR_164672.1:n.1585-29_1585-28del
NR_164673.1:n.1559-29_1559-28del
NM_000204.5:c.1535-29_1535-28del MANE Select NP_000195.3:n.1535-29_1535-28del