Canonical Allele Identifier: CA1484705154
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109741078_109741079delinsCT , CM000666.2:g.109741078_109741079delinsCT GRCh38
NC_000004.11:g.110662234_110662235delinsCT , CM000666.1:g.110662234_110662235delinsCT GRCh37
NC_000004.10:g.110881683_110881684delinsCT NCBI36
NG_007569.1:g.65907_65908delinsAG , LRG_48:g.65907_65908delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1713+1412_1713+1413delinsAG
ENST00000695845.1:n.1712+1412_1712+1413delinsAG
ENST00000695846.1:n.1590_1591delinsAG
ENST00000394634.7:c.1566_1567delinsAG MANE Select ENSP00000378130.2:p.Lys522=
ENST00000394635.8:c.1590_1591delinsAG ENSP00000378131.3:p.Lys530=
ENST00000645635.1:c.1534+1412_1534+1413delinsAG ENSP00000493607.1:n.1534+1412_1534+1413delinsAG
ENST00000394634.6:c.1566_1567delinsAG ENSP00000378130.2:p.Lys522=
ENST00000394635.7:c.1590_1591delinsAG ENSP00000378131.3:p.Lys530=
ENST00000504853.3:n.1983_1984delinsAG
ENST00000512148.5:c.1545_1546delinsAG ENSP00000427438.1:p.Lys515=
ENST00000618244.4:c.1045-274_1045-273delinsAG ENSP00000483416.1:n.1045-274_1045-273delinsAG
NM_000204.3:c.1566_1567delinsAG , LRG_48t1:c.1566_1567delinsAG NP_000195.2:p.Lys522=
XM_005262975.1:c.1590_1591delinsAG XP_005263032.1:p.Lys530=
XM_005262976.1:c.1545_1546delinsAG XP_005263033.1:p.Lys515=
XM_006714209.1:c.1587_1588delinsAG XP_006714272.1:p.Lys529=
XM_011531920.1:c.1558+1412_1558+1413delinsAG XP_011530222.1:n.1558+1412_1558+1413delinsAG
NM_000204.4:c.1566_1567delinsAG NP_000195.2:p.Lys522=
NM_001318057.1:c.1590_1591delinsAG NP_001304986.1:p.Lys530=
NM_001331035.1:c.1545_1546delinsAG NP_001317964.1:p.Lys515=
XM_011531920.2:c.1558+1412_1558+1413delinsAG XP_011530222.1:n.1558+1412_1558+1413delinsAG
XM_017008164.2:c.1534+1412_1534+1413delinsAG XP_016863653.1:n.1534+1412_1534+1413delinsAG
XM_017008165.2:c.1513+1412_1513+1413delinsAG XP_016863654.1:n.1513+1412_1513+1413delinsAG
XM_017008166.2:c.1534+1412_1534+1413delinsAG XP_016863655.1:n.1534+1412_1534+1413delinsAG
NM_001318057.2:c.1590_1591delinsAG NP_001304986.2:p.Lys530=
NM_001331035.2:c.1545_1546delinsAG NP_001317964.1:p.Lys515=
NM_001375278.1:c.1558+1412_1558+1413delinsAG NP_001362207.1:n.1558+1412_1558+1413delinsAG
NM_001375279.1:c.1534+1412_1534+1413delinsAG NP_001362208.1:n.1534+1412_1534+1413delinsAG
NM_001375280.1:c.1513+1412_1513+1413delinsAG NP_001362209.1:n.1513+1412_1513+1413delinsAG
NM_001375281.1:c.1534+1412_1534+1413delinsAG NP_001362210.1:n.1534+1412_1534+1413delinsAG
NM_001375282.1:c.1513+1412_1513+1413delinsAG NP_001362211.1:n.1513+1412_1513+1413delinsAG
NM_001375283.1:c.1509_1510delinsAG NP_001362212.1:p.Lys503=
NM_001375284.1:c.957_958delinsAG NP_001362213.1:p.Lys319=
NR_164671.1:n.1313_1314delinsAG
NR_164672.1:n.1616_1617delinsAG
NR_164673.1:n.1590_1591delinsAG
NM_000204.5:c.1566_1567delinsAG MANE Select NP_000195.3:p.Lys522=