Canonical Allele Identifier: CA1484705041

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741002_109741003delinsTC , CM000666.2:g.109741002_109741003delinsTC	GRCh38
NC_000004.11:g.110662158_110662159delinsTC , CM000666.1:g.110662158_110662159delinsTC	GRCh37
NC_000004.10:g.110881607_110881608delinsTC	NCBI36
NG_007569.1:g.65983_65984delinsGA , LRG_48:g.65983_65984delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1488_1713+1489delinsGA
ENST00000695845.1:n.1712+1488_1712+1489delinsGA
ENST00000695846.1:n.1666_1667delinsGA
ENST00000394634.7:c.1642_1643delinsGA MANE Select	ENSP00000378130.2:p.Glu548=
ENST00000394635.8:c.1666_1667delinsGA	ENSP00000378131.3:p.Glu556=
ENST00000645635.1:c.1534+1488_1534+1489delinsGA	ENSP00000493607.1:n.1534+1488_1534+1489delinsGA
ENST00000394634.6:c.1642_1643delinsGA	ENSP00000378130.2:p.Glu548=
ENST00000394635.7:c.1666_1667delinsGA	ENSP00000378131.3:p.Glu556=
ENST00000504853.3:n.2059_2060delinsGA
ENST00000512148.5:c.1621_1622delinsGA	ENSP00000427438.1:p.Glu541=
ENST00000618244.4:c.1045-198_1045-197delinsGA	ENSP00000483416.1:n.1045-198_1045-197delinsGA
NM_000204.3:c.1642_1643delinsGA , LRG_48t1:c.1642_1643delinsGA	NP_000195.2:p.Glu548=
XM_005262975.1:c.1666_1667delinsGA	XP_005263032.1:p.Glu556=
XM_005262976.1:c.1621_1622delinsGA	XP_005263033.1:p.Glu541=
XM_006714209.1:c.1663_1664delinsGA	XP_006714272.1:p.Glu555=
XM_011531920.1:c.1558+1488_1558+1489delinsGA	XP_011530222.1:n.1558+1488_1558+1489delinsGA
NM_000204.4:c.1642_1643delinsGA	NP_000195.2:p.Glu548=
NM_001318057.1:c.1666_1667delinsGA	NP_001304986.1:p.Glu556=
NM_001331035.1:c.1621_1622delinsGA	NP_001317964.1:p.Glu541=
XM_011531920.2:c.1558+1488_1558+1489delinsGA	XP_011530222.1:n.1558+1488_1558+1489delinsGA
XM_017008164.2:c.1534+1488_1534+1489delinsGA	XP_016863653.1:n.1534+1488_1534+1489delinsGA
XM_017008165.2:c.1513+1488_1513+1489delinsGA	XP_016863654.1:n.1513+1488_1513+1489delinsGA
XM_017008166.2:c.1534+1488_1534+1489delinsGA	XP_016863655.1:n.1534+1488_1534+1489delinsGA
NM_001318057.2:c.1666_1667delinsGA	NP_001304986.2:p.Glu556=
NM_001331035.2:c.1621_1622delinsGA	NP_001317964.1:p.Glu541=
NM_001375278.1:c.1558+1488_1558+1489delinsGA	NP_001362207.1:n.1558+1488_1558+1489delinsGA
NM_001375279.1:c.1534+1488_1534+1489delinsGA	NP_001362208.1:n.1534+1488_1534+1489delinsGA
NM_001375280.1:c.1513+1488_1513+1489delinsGA	NP_001362209.1:n.1513+1488_1513+1489delinsGA
NM_001375281.1:c.1534+1488_1534+1489delinsGA	NP_001362210.1:n.1534+1488_1534+1489delinsGA
NM_001375282.1:c.1513+1488_1513+1489delinsGA	NP_001362211.1:n.1513+1488_1513+1489delinsGA
NM_001375283.1:c.1585_1586delinsGA	NP_001362212.1:p.Glu529=
NM_001375284.1:c.1033_1034delinsGA	NP_001362213.1:p.Glu345=
NR_164671.1:n.1389_1390delinsGA
NR_164672.1:n.1692_1693delinsGA
NR_164673.1:n.1666_1667delinsGA
NM_000204.5:c.1642_1643delinsGA MANE Select	NP_000195.3:p.Glu548=