Canonical Allele Identifier: CA2763038094

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741008dup , CM000666.2:g.109741008dup	GRCh38
NC_000004.11:g.110662164dup , CM000666.1:g.110662164dup	GRCh37
NC_000004.10:g.110881613dup	NCBI36
NG_007569.1:g.65983dup , LRG_48:g.65983dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1488dup
ENST00000695845.1:n.1712+1488dup
ENST00000695846.1:n.1666dup
ENST00000394634.7:c.1642dup MANE Select	ENSP00000378130.2:p.Glu548GlyfsTer20
ENST00000394635.8:c.1666dup	ENSP00000378131.3:p.Glu556GlyfsTer20
ENST00000645635.1:c.1534+1488dup	ENSP00000493607.1:n.1534+1488dup
ENST00000394634.6:c.1642dup	ENSP00000378130.2:p.Glu548GlyfsTer20
ENST00000394635.7:c.1666dup	ENSP00000378131.3:p.Glu556GlyfsTer20
ENST00000504853.3:n.2059dup
ENST00000512148.5:c.1621dup	ENSP00000427438.1:p.Glu541GlyfsTer20
ENST00000618244.4:c.1045-198dup	ENSP00000483416.1:n.1045-198dup
NM_000204.3:c.1642dup , LRG_48t1:c.1642dup	NP_000195.2:p.Glu548GlyfsTer20
XM_005262975.1:c.1666dup	XP_005263032.1:p.Glu556GlyfsTer20
XM_005262976.1:c.1621dup	XP_005263033.1:p.Glu541GlyfsTer20
XM_006714209.1:c.1663dup	XP_006714272.1:p.Glu555GlyfsTer20
XM_011531920.1:c.1558+1488dup	XP_011530222.1:n.1558+1488dup
NM_000204.4:c.1642dup	NP_000195.2:p.Glu548GlyfsTer20
NM_001318057.1:c.1666dup	NP_001304986.1:p.Glu556GlyfsTer20
NM_001331035.1:c.1621dup	NP_001317964.1:p.Glu541GlyfsTer20
XM_011531920.2:c.1558+1488dup	XP_011530222.1:n.1558+1488dup
XM_017008164.2:c.1534+1488dup	XP_016863653.1:n.1534+1488dup
XM_017008165.2:c.1513+1488dup	XP_016863654.1:n.1513+1488dup
XM_017008166.2:c.1534+1488dup	XP_016863655.1:n.1534+1488dup
NM_001318057.2:c.1666dup	NP_001304986.2:p.Glu556GlyfsTer20
NM_001331035.2:c.1621dup	NP_001317964.1:p.Glu541GlyfsTer20
NM_001375278.1:c.1558+1488dup	NP_001362207.1:n.1558+1488dup
NM_001375279.1:c.1534+1488dup	NP_001362208.1:n.1534+1488dup
NM_001375280.1:c.1513+1488dup	NP_001362209.1:n.1513+1488dup
NM_001375281.1:c.1534+1488dup	NP_001362210.1:n.1534+1488dup
NM_001375282.1:c.1513+1488dup	NP_001362211.1:n.1513+1488dup
NM_001375283.1:c.1585dup	NP_001362212.1:p.Glu529GlyfsTer20
NM_001375284.1:c.1033dup	NP_001362213.1:p.Glu345GlyfsTer20
NR_164671.1:n.1389dup
NR_164672.1:n.1692dup
NR_164673.1:n.1666dup
NM_000204.5:c.1642dup MANE Select	NP_000195.3:p.Glu548GlyfsTer20