Canonical Allele Identifier: CA2763038095

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741020_109741021insA , CM000666.2:g.109741020_109741021insA	GRCh38
NC_000004.11:g.110662176_110662177insA , CM000666.1:g.110662176_110662177insA	GRCh37
NC_000004.10:g.110881625_110881626insA	NCBI36
NG_007569.1:g.65965_65966insT , LRG_48:g.65965_65966insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1470_1713+1471insT
ENST00000695845.1:n.1712+1470_1712+1471insT
ENST00000695846.1:n.1648_1649insT
ENST00000394634.7:c.1624_1625insT MANE Select	ENSP00000378130.2:p.Gly542ValfsTer26
ENST00000394635.8:c.1648_1649insT	ENSP00000378131.3:p.Gly550ValfsTer26
ENST00000645635.1:c.1534+1470_1534+1471insT	ENSP00000493607.1:n.1534+1470_1534+1471insT
ENST00000394634.6:c.1624_1625insT	ENSP00000378130.2:p.Gly542ValfsTer26
ENST00000394635.7:c.1648_1649insT	ENSP00000378131.3:p.Gly550ValfsTer26
ENST00000504853.3:n.2041_2042insT
ENST00000512148.5:c.1603_1604insT	ENSP00000427438.1:p.Gly535ValfsTer26
ENST00000618244.4:c.1045-216_1045-215insT	ENSP00000483416.1:n.1045-216_1045-215insT
NM_000204.3:c.1624_1625insT , LRG_48t1:c.1624_1625insT	NP_000195.2:p.Gly542ValfsTer26
XM_005262975.1:c.1648_1649insT	XP_005263032.1:p.Gly550ValfsTer26
XM_005262976.1:c.1603_1604insT	XP_005263033.1:p.Gly535ValfsTer26
XM_006714209.1:c.1645_1646insT	XP_006714272.1:p.Gly549ValfsTer26
XM_011531920.1:c.1558+1470_1558+1471insT	XP_011530222.1:n.1558+1470_1558+1471insT
NM_000204.4:c.1624_1625insT	NP_000195.2:p.Gly542ValfsTer26
NM_001318057.1:c.1648_1649insT	NP_001304986.1:p.Gly550ValfsTer26
NM_001331035.1:c.1603_1604insT	NP_001317964.1:p.Gly535ValfsTer26
XM_011531920.2:c.1558+1470_1558+1471insT	XP_011530222.1:n.1558+1470_1558+1471insT
XM_017008164.2:c.1534+1470_1534+1471insT	XP_016863653.1:n.1534+1470_1534+1471insT
XM_017008165.2:c.1513+1470_1513+1471insT	XP_016863654.1:n.1513+1470_1513+1471insT
XM_017008166.2:c.1534+1470_1534+1471insT	XP_016863655.1:n.1534+1470_1534+1471insT
NM_001318057.2:c.1648_1649insT	NP_001304986.2:p.Gly550ValfsTer26
NM_001331035.2:c.1603_1604insT	NP_001317964.1:p.Gly535ValfsTer26
NM_001375278.1:c.1558+1470_1558+1471insT	NP_001362207.1:n.1558+1470_1558+1471insT
NM_001375279.1:c.1534+1470_1534+1471insT	NP_001362208.1:n.1534+1470_1534+1471insT
NM_001375280.1:c.1513+1470_1513+1471insT	NP_001362209.1:n.1513+1470_1513+1471insT
NM_001375281.1:c.1534+1470_1534+1471insT	NP_001362210.1:n.1534+1470_1534+1471insT
NM_001375282.1:c.1513+1470_1513+1471insT	NP_001362211.1:n.1513+1470_1513+1471insT
NM_001375283.1:c.1567_1568insT	NP_001362212.1:p.Gly523ValfsTer26
NM_001375284.1:c.1015_1016insT	NP_001362213.1:p.Gly339ValfsTer26
NR_164671.1:n.1371_1372insT
NR_164672.1:n.1674_1675insT
NR_164673.1:n.1648_1649insT
NM_000204.5:c.1624_1625insT MANE Select	NP_000195.3:p.Gly542ValfsTer26