Canonical Allele Identifier: CA2540942874

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109746301_109746305del , CM000666.2:g.109746301_109746305del	GRCh38
NC_000004.11:g.110667457_110667461del , CM000666.1:g.110667457_110667461del	GRCh37
NC_000004.10:g.110886906_110886910del	NCBI36
NG_007569.1:g.60683_60687del , LRG_48:g.60683_60687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1527_1531del
ENST00000695845.1:n.1526_1530del
ENST00000695846.1:n.1372_1376del
ENST00000394634.7:c.1348_1352del MANE Select	ENSP00000378130.2:p.Ile450CysfsTer13
ENST00000394635.8:c.1372_1376del	ENSP00000378131.3:p.Ile458CysfsTer13
ENST00000645635.1:c.1348_1352del	ENSP00000493607.1:p.Ile450CysfsTer13
ENST00000394634.6:c.1348_1352del	ENSP00000378130.2:p.Ile450CysfsTer13
ENST00000394635.7:c.1372_1376del	ENSP00000378131.3:p.Ile458CysfsTer13
ENST00000504853.3:n.1765_1769del
ENST00000512148.5:c.1327_1331del	ENSP00000427438.1:p.Ile443CysfsTer13
ENST00000618244.4:c.1044+3196_1044+3200del	ENSP00000483416.1:n.1044+3196_1044+3200del
NM_000204.3:c.1348_1352del , LRG_48t1:c.1348_1352del	NP_000195.2:p.Ile450CysfsTer13
XM_005262975.1:c.1372_1376del	XP_005263032.1:p.Ile458CysfsTer13
XM_005262976.1:c.1327_1331del	XP_005263033.1:p.Ile443CysfsTer13
XM_006714209.1:c.1369_1373del	XP_006714272.1:p.Ile457CysfsTer13
XM_006714210.2:c.1372_1376del	XP_006714273.1:p.Ile458CysfsTer13
XM_011531920.1:c.1372_1376del	XP_011530222.1:p.Ile458CysfsTer13
NM_000204.4:c.1348_1352del	NP_000195.2:p.Ile450CysfsTer13
NM_001318057.1:c.1372_1376del	NP_001304986.1:p.Ile458CysfsTer13
NM_001331035.1:c.1327_1331del	NP_001317964.1:p.Ile443CysfsTer13
XM_006714210.4:c.1372_1376del	XP_006714273.1:p.Ile458CysfsTer13
XM_011531920.2:c.1372_1376del	XP_011530222.1:p.Ile458CysfsTer13
XM_017008164.2:c.1348_1352del	XP_016863653.1:p.Ile450CysfsTer13
XM_017008165.2:c.1327_1331del	XP_016863654.1:p.Ile443CysfsTer13
XM_017008166.2:c.1348_1352del	XP_016863655.1:p.Ile450CysfsTer13
NM_001318057.2:c.1372_1376del	NP_001304986.2:p.Ile458CysfsTer13
NM_001331035.2:c.1327_1331del	NP_001317964.1:p.Ile443CysfsTer13
NM_001375278.1:c.1372_1376del	NP_001362207.1:p.Ile458CysfsTer13
NM_001375279.1:c.1348_1352del	NP_001362208.1:p.Ile450CysfsTer13
NM_001375280.1:c.1327_1331del	NP_001362209.1:p.Ile443CysfsTer13
NM_001375281.1:c.1348_1352del	NP_001362210.1:p.Ile450CysfsTer13
NM_001375282.1:c.1327_1331del	NP_001362211.1:p.Ile443CysfsTer13
NM_001375283.1:c.1291_1295del	NP_001362212.1:p.Ile431CysfsTer13
NM_001375284.1:c.739_743del	NP_001362213.1:p.Ile247CysfsTer13
NR_164671.1:n.1176+2915_1176+2919del
NR_164672.1:n.1398_1402del
NR_164673.1:n.1372_1376del
NM_000204.5:c.1348_1352del MANE Select	NP_000195.3:p.Ile450CysfsTer13