Canonical Allele Identifier: CA1484710154

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109745205_109745207delinsCAG , CM000666.2:g.109745205_109745207delinsCAG	GRCh38
NC_000004.11:g.110666361_110666363delinsCAG , CM000666.1:g.110666361_110666363delinsCAG	GRCh37
NC_000004.10:g.110885810_110885812delinsCAG	NCBI36
NG_007569.1:g.61779_61781delinsCTG , LRG_48:g.61779_61781delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000695844.1:n.1608+1015_1608+1017delinsCTG
ENST00000695845.1:n.1607+1015_1607+1017delinsCTG
ENST00000695846.1:n.1453+1015_1453+1017delinsCTG
ENST00000394634.7:c.1429+1015_1429+1017delinsCTG MANE Select	ENSP00000378130.2:n.1429+1015_1429+1017delinsCTG
ENST00000394635.8:c.1453+1015_1453+1017delinsCTG	ENSP00000378131.3:n.1453+1015_1453+1017delinsCTG
ENST00000645635.1:c.1429+1015_1429+1017delinsCTG	ENSP00000493607.1:n.1429+1015_1429+1017delinsCTG
ENST00000394634.6:c.1429+1015_1429+1017delinsCTG	ENSP00000378130.2:n.1429+1015_1429+1017delinsCTG
ENST00000394635.7:c.1453+1015_1453+1017delinsCTG	ENSP00000378131.3:n.1453+1015_1453+1017delinsCTG
ENST00000504853.3:n.1846+1015_1846+1017delinsCTG
ENST00000512148.5:c.1408+1015_1408+1017delinsCTG	ENSP00000427438.1:n.1408+1015_1408+1017delinsCTG
ENST00000515512.1:n.71+1015_71+1017delinsCTG
ENST00000618244.4:c.1044+4292_1044+4294delinsCTG	ENSP00000483416.1:n.1044+4292_1044+4294delinsCTG
NM_000204.3:c.1429+1015_1429+1017delinsCTG , LRG_48t1:c.1429+1015_1429+1017delinsCTG	NP_000195.2:n.1429+1015_1429+1017delinsCTG
XM_005262975.1:c.1453+1015_1453+1017delinsCTG	XP_005263032.1:n.1453+1015_1453+1017delinsCTG
XM_005262976.1:c.1408+1015_1408+1017delinsCTG	XP_005263033.1:n.1408+1015_1408+1017delinsCTG
XM_006714209.1:c.1450+1015_1450+1017delinsCTG	XP_006714272.1:n.1450+1015_1450+1017delinsCTG
XM_006714210.2:c.1453+1015_1453+1017delinsCTG	XP_006714273.1:n.1453+1015_1453+1017delinsCTG
XM_011531920.1:c.1453+1015_1453+1017delinsCTG	XP_011530222.1:n.1453+1015_1453+1017delinsCTG
NM_000204.4:c.1429+1015_1429+1017delinsCTG	NP_000195.2:n.1429+1015_1429+1017delinsCTG
NM_001318057.1:c.1453+1015_1453+1017delinsCTG	NP_001304986.1:n.1453+1015_1453+1017delinsCTG
NM_001331035.1:c.1408+1015_1408+1017delinsCTG	NP_001317964.1:n.1408+1015_1408+1017delinsCTG
XM_006714210.4:c.1453+1015_1453+1017delinsCTG	XP_006714273.1:n.1453+1015_1453+1017delinsCTG
XM_011531920.2:c.1453+1015_1453+1017delinsCTG	XP_011530222.1:n.1453+1015_1453+1017delinsCTG
XM_017008164.2:c.1429+1015_1429+1017delinsCTG	XP_016863653.1:n.1429+1015_1429+1017delinsCTG
XM_017008165.2:c.1408+1015_1408+1017delinsCTG	XP_016863654.1:n.1408+1015_1408+1017delinsCTG
XM_017008166.2:c.1429+1015_1429+1017delinsCTG	XP_016863655.1:n.1429+1015_1429+1017delinsCTG
NM_001318057.2:c.1453+1015_1453+1017delinsCTG	NP_001304986.2:n.1453+1015_1453+1017delinsCTG
NM_001331035.2:c.1408+1015_1408+1017delinsCTG	NP_001317964.1:n.1408+1015_1408+1017delinsCTG
NM_001375278.1:c.1453+1015_1453+1017delinsCTG	NP_001362207.1:n.1453+1015_1453+1017delinsCTG
NM_001375279.1:c.1429+1015_1429+1017delinsCTG	NP_001362208.1:n.1429+1015_1429+1017delinsCTG
NM_001375280.1:c.1408+1015_1408+1017delinsCTG	NP_001362209.1:n.1408+1015_1408+1017delinsCTG
NM_001375281.1:c.1429+1015_1429+1017delinsCTG	NP_001362210.1:n.1429+1015_1429+1017delinsCTG
NM_001375282.1:c.1408+1015_1408+1017delinsCTG	NP_001362211.1:n.1408+1015_1408+1017delinsCTG
NM_001375283.1:c.1372+1015_1372+1017delinsCTG	NP_001362212.1:n.1372+1015_1372+1017delinsCTG
NM_001375284.1:c.820+1015_820+1017delinsCTG	NP_001362213.1:n.820+1015_820+1017delinsCTG
NR_164671.1:n.1177-2612_1177-2610delinsCTG
NR_164672.1:n.1479+1015_1479+1017delinsCTG
NR_164673.1:n.1453+1015_1453+1017delinsCTG
NM_000204.5:c.1429+1015_1429+1017delinsCTG MANE Select	NP_000195.3:n.1429+1015_1429+1017delinsCTG