Canonical Allele Identifier: CA2507880613
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109740919_109740920insTATAATTAATAAT , CM000666.2:g.109740919_109740920insTATAATTAATAAT GRCh38
NC_000004.11:g.110662075_110662076insTATAATTAATAAT , CM000666.1:g.110662075_110662076insTATAATTAATAAT GRCh37
NC_000004.10:g.110881524_110881525insTATAATTAATAAT NCBI36
NG_007569.1:g.66066_66067insATTATTAATTATA , LRG_48:g.66066_66067insATTATTAATTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1713+1571_1713+1572insATTATTAATTATA
ENST00000695845.1:n.1712+1571_1712+1572insATTATTAATTATA
ENST00000695846.1:n.1749_1750insATTATTAATTATA
ENST00000394634.7:c.1725_1726insATTATTAATTATA MANE Select ENSP00000378130.2:p.Pro576IlefsTer16
ENST00000394635.8:c.1749_1750insATTATTAATTATA ENSP00000378131.3:p.Pro584IlefsTer16
ENST00000645635.1:c.1534+1571_1534+1572insATTATTAATTATA ENSP00000493607.1:n.1534+1571_1534+1572insATTATTAATTATA
ENST00000394634.6:c.1725_1726insATTATTAATTATA ENSP00000378130.2:p.Pro576IlefsTer16
ENST00000394635.7:c.1749_1750insATTATTAATTATA ENSP00000378131.3:p.Pro584IlefsTer16
ENST00000504853.3:n.2142_2143insATTATTAATTATA
ENST00000512148.5:c.1704_1705insATTATTAATTATA ENSP00000427438.1:p.Pro569IlefsTer16
ENST00000618244.4:c.1045-115_1045-114insATTATTAATTATA ENSP00000483416.1:n.1045-115_1045-114insATTATTAATTATA
NM_000204.3:c.1725_1726insATTATTAATTATA , LRG_48t1:c.1725_1726insATTATTAATTATA NP_000195.2:p.Pro576IlefsTer16
XM_005262975.1:c.1749_1750insATTATTAATTATA XP_005263032.1:p.Pro584IlefsTer16
XM_005262976.1:c.1704_1705insATTATTAATTATA XP_005263033.1:p.Pro569IlefsTer16
XM_006714209.1:c.1746_1747insATTATTAATTATA XP_006714272.1:p.Pro583IlefsTer16
XM_011531920.1:c.1558+1571_1558+1572insATTATTAATTATA XP_011530222.1:n.1558+1571_1558+1572insATTATTAATTATA
NM_000204.4:c.1725_1726insATTATTAATTATA NP_000195.2:p.Pro576IlefsTer16
NM_001318057.1:c.1749_1750insATTATTAATTATA NP_001304986.1:p.Pro584IlefsTer16
NM_001331035.1:c.1704_1705insATTATTAATTATA NP_001317964.1:p.Pro569IlefsTer16
XM_011531920.2:c.1558+1571_1558+1572insATTATTAATTATA XP_011530222.1:n.1558+1571_1558+1572insATTATTAATTATA
XM_017008164.2:c.1534+1571_1534+1572insATTATTAATTATA XP_016863653.1:n.1534+1571_1534+1572insATTATTAATTATA
XM_017008165.2:c.1513+1571_1513+1572insATTATTAATTATA XP_016863654.1:n.1513+1571_1513+1572insATTATTAATTATA
XM_017008166.2:c.1534+1571_1534+1572insATTATTAATTATA XP_016863655.1:n.1534+1571_1534+1572insATTATTAATTATA
NM_001318057.2:c.1749_1750insATTATTAATTATA NP_001304986.2:p.Pro584IlefsTer16
NM_001331035.2:c.1704_1705insATTATTAATTATA NP_001317964.1:p.Pro569IlefsTer16
NM_001375278.1:c.1558+1571_1558+1572insATTATTAATTATA NP_001362207.1:n.1558+1571_1558+1572insATTATTAATTATA
NM_001375279.1:c.1534+1571_1534+1572insATTATTAATTATA NP_001362208.1:n.1534+1571_1534+1572insATTATTAATTATA
NM_001375280.1:c.1513+1571_1513+1572insATTATTAATTATA NP_001362209.1:n.1513+1571_1513+1572insATTATTAATTATA
NM_001375281.1:c.1534+1571_1534+1572insATTATTAATTATA NP_001362210.1:n.1534+1571_1534+1572insATTATTAATTATA
NM_001375282.1:c.1513+1571_1513+1572insATTATTAATTATA NP_001362211.1:n.1513+1571_1513+1572insATTATTAATTATA
NM_001375283.1:c.1668_1669insATTATTAATTATA NP_001362212.1:p.Pro557IlefsTer16
NM_001375284.1:c.1116_1117insATTATTAATTATA NP_001362213.1:p.Pro373IlefsTer16
NR_164671.1:n.1472_1473insATTATTAATTATA
NR_164672.1:n.1775_1776insATTATTAATTATA
NR_164673.1:n.1749_1750insATTATTAATTATA
NM_000204.5:c.1725_1726insATTATTAATTATA MANE Select NP_000195.3:p.Pro576IlefsTer16