Canonical Allele Identifier: CA2565803673
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109740917_109740918insC , CM000666.2:g.109740917_109740918insC GRCh38
NC_000004.11:g.110662073_110662074insC , CM000666.1:g.110662073_110662074insC GRCh37
NC_000004.10:g.110881522_110881523insC NCBI36
NG_007569.1:g.66068_66069insG , LRG_48:g.66068_66069insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1713+1573_1713+1574insG
ENST00000695845.1:n.1712+1573_1712+1574insG
ENST00000695846.1:n.1751_1752insG
ENST00000394634.7:c.1727_1728insG MANE Select ENSP00000378130.2:p.Ile578TyrfsTer10
ENST00000394635.8:c.1751_1752insG ENSP00000378131.3:p.Ile586TyrfsTer10
ENST00000645635.1:c.1534+1573_1534+1574insG ENSP00000493607.1:n.1534+1573_1534+1574insG
ENST00000394634.6:c.1727_1728insG ENSP00000378130.2:p.Ile578TyrfsTer10
ENST00000394635.7:c.1751_1752insG ENSP00000378131.3:p.Ile586TyrfsTer10
ENST00000504853.3:n.2144_2145insG
ENST00000512148.5:c.1706_1707insG ENSP00000427438.1:p.Ile571TyrfsTer10
ENST00000618244.4:c.1045-113_1045-112insG ENSP00000483416.1:n.1045-113_1045-112insG
NM_000204.3:c.1727_1728insG , LRG_48t1:c.1727_1728insG NP_000195.2:p.Ile578TyrfsTer10
XM_005262975.1:c.1751_1752insG XP_005263032.1:p.Ile586TyrfsTer10
XM_005262976.1:c.1706_1707insG XP_005263033.1:p.Ile571TyrfsTer10
XM_006714209.1:c.1748_1749insG XP_006714272.1:p.Ile585TyrfsTer10
XM_011531920.1:c.1558+1573_1558+1574insG XP_011530222.1:n.1558+1573_1558+1574insG
NM_000204.4:c.1727_1728insG NP_000195.2:p.Ile578TyrfsTer10
NM_001318057.1:c.1751_1752insG NP_001304986.1:p.Ile586TyrfsTer10
NM_001331035.1:c.1706_1707insG NP_001317964.1:p.Ile571TyrfsTer10
XM_011531920.2:c.1558+1573_1558+1574insG XP_011530222.1:n.1558+1573_1558+1574insG
XM_017008164.2:c.1534+1573_1534+1574insG XP_016863653.1:n.1534+1573_1534+1574insG
XM_017008165.2:c.1513+1573_1513+1574insG XP_016863654.1:n.1513+1573_1513+1574insG
XM_017008166.2:c.1534+1573_1534+1574insG XP_016863655.1:n.1534+1573_1534+1574insG
NM_001318057.2:c.1751_1752insG NP_001304986.2:p.Ile586TyrfsTer10
NM_001331035.2:c.1706_1707insG NP_001317964.1:p.Ile571TyrfsTer10
NM_001375278.1:c.1558+1573_1558+1574insG NP_001362207.1:n.1558+1573_1558+1574insG
NM_001375279.1:c.1534+1573_1534+1574insG NP_001362208.1:n.1534+1573_1534+1574insG
NM_001375280.1:c.1513+1573_1513+1574insG NP_001362209.1:n.1513+1573_1513+1574insG
NM_001375281.1:c.1534+1573_1534+1574insG NP_001362210.1:n.1534+1573_1534+1574insG
NM_001375282.1:c.1513+1573_1513+1574insG NP_001362211.1:n.1513+1573_1513+1574insG
NM_001375283.1:c.1670_1671insG NP_001362212.1:p.Ile559TyrfsTer10
NM_001375284.1:c.1118_1119insG NP_001362213.1:p.Ile375TyrfsTer10
NR_164671.1:n.1474_1475insG
NR_164672.1:n.1777_1778insG
NR_164673.1:n.1751_1752insG
NM_000204.5:c.1727_1728insG MANE Select NP_000195.3:p.Ile578TyrfsTer10