Canonical Allele Identifier: CA2763038221
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109746131_109746134del , CM000666.2:g.109746131_109746134del GRCh38
NC_000004.11:g.110667287_110667290del , CM000666.1:g.110667287_110667290del GRCh37
NC_000004.10:g.110886736_110886739del NCBI36
NG_007569.1:g.60855_60858del , LRG_48:g.60855_60858del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1608+91_1608+94del
ENST00000695845.1:n.1607+91_1607+94del
ENST00000695846.1:n.1453+91_1453+94del
ENST00000394634.7:c.1429+91_1429+94del MANE Select ENSP00000378130.2:n.1429+91_1429+94del
ENST00000394635.8:c.1453+91_1453+94del ENSP00000378131.3:n.1453+91_1453+94del
ENST00000645635.1:c.1429+91_1429+94del ENSP00000493607.1:n.1429+91_1429+94del
ENST00000394634.6:c.1429+91_1429+94del ENSP00000378130.2:n.1429+91_1429+94del
ENST00000394635.7:c.1453+91_1453+94del ENSP00000378131.3:n.1453+91_1453+94del
ENST00000504853.3:n.1846+91_1846+94del
ENST00000512148.5:c.1408+91_1408+94del ENSP00000427438.1:n.1408+91_1408+94del
ENST00000515512.1:n.71+91_71+94del
ENST00000618244.4:c.1044+3368_1044+3371del ENSP00000483416.1:n.1044+3368_1044+3371del
NM_000204.3:c.1429+91_1429+94del , LRG_48t1:c.1429+91_1429+94del NP_000195.2:n.1429+91_1429+94del
XM_005262975.1:c.1453+91_1453+94del XP_005263032.1:n.1453+91_1453+94del
XM_005262976.1:c.1408+91_1408+94del XP_005263033.1:n.1408+91_1408+94del
XM_006714209.1:c.1450+91_1450+94del XP_006714272.1:n.1450+91_1450+94del
XM_006714210.2:c.1453+91_1453+94del XP_006714273.1:n.1453+91_1453+94del
XM_011531920.1:c.1453+91_1453+94del XP_011530222.1:n.1453+91_1453+94del
NM_000204.4:c.1429+91_1429+94del NP_000195.2:n.1429+91_1429+94del
NM_001318057.1:c.1453+91_1453+94del NP_001304986.1:n.1453+91_1453+94del
NM_001331035.1:c.1408+91_1408+94del NP_001317964.1:n.1408+91_1408+94del
XM_006714210.4:c.1453+91_1453+94del XP_006714273.1:n.1453+91_1453+94del
XM_011531920.2:c.1453+91_1453+94del XP_011530222.1:n.1453+91_1453+94del
XM_017008164.2:c.1429+91_1429+94del XP_016863653.1:n.1429+91_1429+94del
XM_017008165.2:c.1408+91_1408+94del XP_016863654.1:n.1408+91_1408+94del
XM_017008166.2:c.1429+91_1429+94del XP_016863655.1:n.1429+91_1429+94del
NM_001318057.2:c.1453+91_1453+94del NP_001304986.2:n.1453+91_1453+94del
NM_001331035.2:c.1408+91_1408+94del NP_001317964.1:n.1408+91_1408+94del
NM_001375278.1:c.1453+91_1453+94del NP_001362207.1:n.1453+91_1453+94del
NM_001375279.1:c.1429+91_1429+94del NP_001362208.1:n.1429+91_1429+94del
NM_001375280.1:c.1408+91_1408+94del NP_001362209.1:n.1408+91_1408+94del
NM_001375281.1:c.1429+91_1429+94del NP_001362210.1:n.1429+91_1429+94del
NM_001375282.1:c.1408+91_1408+94del NP_001362211.1:n.1408+91_1408+94del
NM_001375283.1:c.1372+91_1372+94del NP_001362212.1:n.1372+91_1372+94del
NM_001375284.1:c.820+91_820+94del NP_001362213.1:n.820+91_820+94del
NR_164671.1:n.1176+3087_1176+3090del
NR_164672.1:n.1479+91_1479+94del
NR_164673.1:n.1453+91_1453+94del
NM_000204.5:c.1429+91_1429+94del MANE Select NP_000195.3:n.1429+91_1429+94del