Canonical Allele Identifier: CA1484705033
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109740998_109740999delinsGT , CM000666.2:g.109740998_109740999delinsGT GRCh38
NC_000004.11:g.110662154_110662155delinsGT , CM000666.1:g.110662154_110662155delinsGT GRCh37
NC_000004.10:g.110881603_110881604delinsGT NCBI36
NG_007569.1:g.65987_65988delinsAC , LRG_48:g.65987_65988delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1713+1492_1713+1493delinsAC
ENST00000695845.1:n.1712+1492_1712+1493delinsAC
ENST00000695846.1:n.1670_1671delinsAC
ENST00000394634.7:c.1646_1647delinsAC MANE Select ENSP00000378130.2:p.Asn549=
ENST00000394635.8:c.1670_1671delinsAC ENSP00000378131.3:p.Asn557=
ENST00000645635.1:c.1534+1492_1534+1493delinsAC ENSP00000493607.1:n.1534+1492_1534+1493delinsAC
ENST00000394634.6:c.1646_1647delinsAC ENSP00000378130.2:p.Asn549=
ENST00000394635.7:c.1670_1671delinsAC ENSP00000378131.3:p.Asn557=
ENST00000504853.3:n.2063_2064delinsAC
ENST00000512148.5:c.1625_1626delinsAC ENSP00000427438.1:p.Asn542=
ENST00000618244.4:c.1045-194_1045-193delinsAC ENSP00000483416.1:n.1045-194_1045-193delinsAC
NM_000204.3:c.1646_1647delinsAC , LRG_48t1:c.1646_1647delinsAC NP_000195.2:p.Asn549=
XM_005262975.1:c.1670_1671delinsAC XP_005263032.1:p.Asn557=
XM_005262976.1:c.1625_1626delinsAC XP_005263033.1:p.Asn542=
XM_006714209.1:c.1667_1668delinsAC XP_006714272.1:p.Asn556=
XM_011531920.1:c.1558+1492_1558+1493delinsAC XP_011530222.1:n.1558+1492_1558+1493delinsAC
NM_000204.4:c.1646_1647delinsAC NP_000195.2:p.Asn549=
NM_001318057.1:c.1670_1671delinsAC NP_001304986.1:p.Asn557=
NM_001331035.1:c.1625_1626delinsAC NP_001317964.1:p.Asn542=
XM_011531920.2:c.1558+1492_1558+1493delinsAC XP_011530222.1:n.1558+1492_1558+1493delinsAC
XM_017008164.2:c.1534+1492_1534+1493delinsAC XP_016863653.1:n.1534+1492_1534+1493delinsAC
XM_017008165.2:c.1513+1492_1513+1493delinsAC XP_016863654.1:n.1513+1492_1513+1493delinsAC
XM_017008166.2:c.1534+1492_1534+1493delinsAC XP_016863655.1:n.1534+1492_1534+1493delinsAC
NM_001318057.2:c.1670_1671delinsAC NP_001304986.2:p.Asn557=
NM_001331035.2:c.1625_1626delinsAC NP_001317964.1:p.Asn542=
NM_001375278.1:c.1558+1492_1558+1493delinsAC NP_001362207.1:n.1558+1492_1558+1493delinsAC
NM_001375279.1:c.1534+1492_1534+1493delinsAC NP_001362208.1:n.1534+1492_1534+1493delinsAC
NM_001375280.1:c.1513+1492_1513+1493delinsAC NP_001362209.1:n.1513+1492_1513+1493delinsAC
NM_001375281.1:c.1534+1492_1534+1493delinsAC NP_001362210.1:n.1534+1492_1534+1493delinsAC
NM_001375282.1:c.1513+1492_1513+1493delinsAC NP_001362211.1:n.1513+1492_1513+1493delinsAC
NM_001375283.1:c.1589_1590delinsAC NP_001362212.1:p.Asn530=
NM_001375284.1:c.1037_1038delinsAC NP_001362213.1:p.Asn346=
NR_164671.1:n.1393_1394delinsAC
NR_164672.1:n.1696_1697delinsAC
NR_164673.1:n.1670_1671delinsAC
NM_000204.5:c.1646_1647delinsAC MANE Select NP_000195.3:p.Asn549=