Canonical Allele Identifier: CA2763038096

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741073_109741076dup , CM000666.2:g.109741073_109741076dup	GRCh38
NC_000004.11:g.110662229_110662232dup , CM000666.1:g.110662229_110662232dup	GRCh37
NC_000004.10:g.110881678_110881681dup	NCBI36
NG_007569.1:g.65910_65913dup , LRG_48:g.65910_65913dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1415_1713+1418dup
ENST00000695845.1:n.1712+1415_1712+1418dup
ENST00000695846.1:n.1593_1596dup
ENST00000394634.7:c.1569_1572dup MANE Select	ENSP00000378130.2:p.Ser525GlyfsTer?
ENST00000394635.8:c.1593_1596dup	ENSP00000378131.3:p.Ser533GlyfsTer?
ENST00000645635.1:c.1534+1415_1534+1418dup	ENSP00000493607.1:n.1534+1415_1534+1418dup
ENST00000394634.6:c.1569_1572dup	ENSP00000378130.2:p.Ser525GlyfsTer?
ENST00000394635.7:c.1593_1596dup	ENSP00000378131.3:p.Ser533GlyfsTer?
ENST00000504853.3:n.1986_1989dup
ENST00000512148.5:c.1548_1551dup	ENSP00000427438.1:p.Ser518GlyfsTer?
ENST00000618244.4:c.1045-271_1045-268dup	ENSP00000483416.1:n.1045-271_1045-268dup
NM_000204.3:c.1569_1572dup , LRG_48t1:c.1569_1572dup	NP_000195.2:p.Ser525GlyfsTer?
XM_005262975.1:c.1593_1596dup	XP_005263032.1:p.Ser533GlyfsTer?
XM_005262976.1:c.1548_1551dup	XP_005263033.1:p.Ser518GlyfsTer?
XM_006714209.1:c.1590_1593dup	XP_006714272.1:p.Ser532GlyfsTer?
XM_011531920.1:c.1558+1415_1558+1418dup	XP_011530222.1:n.1558+1415_1558+1418dup
NM_000204.4:c.1569_1572dup	NP_000195.2:p.Ser525GlyfsTer?
NM_001318057.1:c.1593_1596dup	NP_001304986.1:p.Ser533GlyfsTer?
NM_001331035.1:c.1548_1551dup	NP_001317964.1:p.Ser518GlyfsTer?
XM_011531920.2:c.1558+1415_1558+1418dup	XP_011530222.1:n.1558+1415_1558+1418dup
XM_017008164.2:c.1534+1415_1534+1418dup	XP_016863653.1:n.1534+1415_1534+1418dup
XM_017008165.2:c.1513+1415_1513+1418dup	XP_016863654.1:n.1513+1415_1513+1418dup
XM_017008166.2:c.1534+1415_1534+1418dup	XP_016863655.1:n.1534+1415_1534+1418dup
NM_001318057.2:c.1593_1596dup	NP_001304986.2:p.Ser533GlyfsTer?
NM_001331035.2:c.1548_1551dup	NP_001317964.1:p.Ser518GlyfsTer?
NM_001375278.1:c.1558+1415_1558+1418dup	NP_001362207.1:n.1558+1415_1558+1418dup
NM_001375279.1:c.1534+1415_1534+1418dup	NP_001362208.1:n.1534+1415_1534+1418dup
NM_001375280.1:c.1513+1415_1513+1418dup	NP_001362209.1:n.1513+1415_1513+1418dup
NM_001375281.1:c.1534+1415_1534+1418dup	NP_001362210.1:n.1534+1415_1534+1418dup
NM_001375282.1:c.1513+1415_1513+1418dup	NP_001362211.1:n.1513+1415_1513+1418dup
NM_001375283.1:c.1512_1515dup	NP_001362212.1:p.Ser506GlyfsTer?
NM_001375284.1:c.960_963dup	NP_001362213.1:p.Ser322GlyfsTer?
NR_164671.1:n.1316_1319dup
NR_164672.1:n.1619_1622dup
NR_164673.1:n.1593_1596dup
NM_000204.5:c.1569_1572dup MANE Select	NP_000195.3:p.Ser525GlyfsTer?