Canonical Allele Identifier: CA2546198644

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109746322_109746327del , CM000666.2:g.109746322_109746327del	GRCh38
NC_000004.11:g.110667478_110667483del , CM000666.1:g.110667478_110667483del	GRCh37
NC_000004.10:g.110886927_110886932del	NCBI36
NG_007569.1:g.60659_60664del , LRG_48:g.60659_60664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1503_1508del
ENST00000695845.1:n.1502_1507del
ENST00000695846.1:n.1348_1353del
ENST00000394634.7:c.1324_1329del MANE Select	ENSP00000378130.2:p.Lys442_Asp443del
ENST00000394635.8:c.1348_1353del	ENSP00000378131.3:p.Lys450_Asp451del
ENST00000645635.1:c.1324_1329del	ENSP00000493607.1:p.Lys442_Asp443del
ENST00000394634.6:c.1324_1329del	ENSP00000378130.2:p.Lys442_Asp443del
ENST00000394635.7:c.1348_1353del	ENSP00000378131.3:p.Lys450_Asp451del
ENST00000504853.3:n.1741_1746del
ENST00000512148.5:c.1303_1308del	ENSP00000427438.1:p.Lys435_Asp436del
ENST00000618244.4:c.1044+3172_1044+3177del	ENSP00000483416.1:n.1044+3172_1044+3177del
NM_000204.3:c.1324_1329del , LRG_48t1:c.1324_1329del	NP_000195.2:p.Lys442_Asp443del
XM_005262975.1:c.1348_1353del	XP_005263032.1:p.Lys450_Asp451del
XM_005262976.1:c.1303_1308del	XP_005263033.1:p.Lys435_Asp436del
XM_006714209.1:c.1345_1350del	XP_006714272.1:p.Lys449_Asp450del
XM_006714210.2:c.1348_1353del	XP_006714273.1:p.Lys450_Asp451del
XM_011531920.1:c.1348_1353del	XP_011530222.1:p.Lys450_Asp451del
NM_000204.4:c.1324_1329del	NP_000195.2:p.Lys442_Asp443del
NM_001318057.1:c.1348_1353del	NP_001304986.1:p.Lys450_Asp451del
NM_001331035.1:c.1303_1308del	NP_001317964.1:p.Lys435_Asp436del
XM_006714210.4:c.1348_1353del	XP_006714273.1:p.Lys450_Asp451del
XM_011531920.2:c.1348_1353del	XP_011530222.1:p.Lys450_Asp451del
XM_017008164.2:c.1324_1329del	XP_016863653.1:p.Lys442_Asp443del
XM_017008165.2:c.1303_1308del	XP_016863654.1:p.Lys435_Asp436del
XM_017008166.2:c.1324_1329del	XP_016863655.1:p.Lys442_Asp443del
NM_001318057.2:c.1348_1353del	NP_001304986.2:p.Lys450_Asp451del
NM_001331035.2:c.1303_1308del	NP_001317964.1:p.Lys435_Asp436del
NM_001375278.1:c.1348_1353del	NP_001362207.1:p.Lys450_Asp451del
NM_001375279.1:c.1324_1329del	NP_001362208.1:p.Lys442_Asp443del
NM_001375280.1:c.1303_1308del	NP_001362209.1:p.Lys435_Asp436del
NM_001375281.1:c.1324_1329del	NP_001362210.1:p.Lys442_Asp443del
NM_001375282.1:c.1303_1308del	NP_001362211.1:p.Lys435_Asp436del
NM_001375283.1:c.1267_1272del	NP_001362212.1:p.Lys423_Asp424del
NM_001375284.1:c.715_720del	NP_001362213.1:p.Lys239_Asp240del
NR_164671.1:n.1176+2891_1176+2896del
NR_164672.1:n.1374_1379del
NR_164673.1:n.1348_1353del
NM_000204.5:c.1324_1329del MANE Select	NP_000195.3:p.Lys442_Asp443del