Canonical Allele Identifier: CA3041947

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109746351del , CM000666.2:g.109746351del	GRCh38
NC_000004.11:g.110667507del , CM000666.1:g.110667507del	GRCh37
NC_000004.10:g.110886956del	NCBI36
NG_007569.1:g.60635del , LRG_48:g.60635del

Transcript Alleles

HGVS	Amino-acid Change
NM_000204.5:c.1300del MANE Select	NP_000195.3:p.Glu434LysfsTer2
ENST00000394634.7:c.1300del MANE Select	ENSP00000378130.2:p.Glu434LysfsTer2
NM_000204.3:c.1300del , LRG_48t1:c.1300del	NP_000195.2:p.Glu434LysfsTer2
NM_000204.4:c.1300del	NP_000195.2:p.Glu434LysfsTer2
NM_001318057.1:c.1324del	NP_001304986.1:p.Glu442LysfsTer2
NM_001318057.2:c.1324del	NP_001304986.2:p.Glu442LysfsTer2
NM_001331035.1:c.1279del	NP_001317964.1:p.Glu427LysfsTer2
NM_001331035.2:c.1279del	NP_001317964.1:p.Glu427LysfsTer2
NM_001375278.1:c.1324del	NP_001362207.1:p.Glu442LysfsTer2
NM_001375279.1:c.1300del	NP_001362208.1:p.Glu434LysfsTer2
NM_001375280.1:c.1279del	NP_001362209.1:p.Glu427LysfsTer2
NM_001375281.1:c.1300del	NP_001362210.1:p.Glu434LysfsTer2
NM_001375282.1:c.1279del	NP_001362211.1:p.Glu427LysfsTer2
NM_001375283.1:c.1243del	NP_001362212.1:p.Glu415LysfsTer2
NM_001375284.1:c.691del	NP_001362213.1:p.Glu231LysfsTer2
NR_164671.1:n.1176+2867del
NR_164672.1:n.1350del
NR_164673.1:n.1324del
ENST00000394634.6:c.1300del	ENSP00000378130.2:p.Glu434LysfsTer2
ENST00000394635.7:c.1324del	ENSP00000378131.3:p.Glu442LysfsTer2
ENST00000394635.8:c.1324del	ENSP00000378131.3:p.Glu442LysfsTer2
ENST00000504853.3:n.1717del
ENST00000512148.5:c.1279del	ENSP00000427438.1:p.Glu427LysfsTer2
ENST00000618244.4:c.1044+3148del	ENSP00000483416.1:n.1044+3148del
ENST00000645635.1:c.1300del	ENSP00000493607.1:p.Glu434LysfsTer2
ENST00000695844.1:n.1479del
ENST00000695845.1:n.1478del
ENST00000695846.1:n.1324del
XM_005262975.1:c.1324del	XP_005263032.1:p.Glu442LysfsTer2
XM_005262976.1:c.1279del	XP_005263033.1:p.Glu427LysfsTer2
XM_006714209.1:c.1321del	XP_006714272.1:p.Glu441LysfsTer2
XM_006714210.2:c.1324del	XP_006714273.1:p.Glu442LysfsTer2
XM_006714210.4:c.1324del	XP_006714273.1:p.Glu442LysfsTer2
XM_011531920.1:c.1324del	XP_011530222.1:p.Glu442LysfsTer2
XM_011531920.2:c.1324del	XP_011530222.1:p.Glu442LysfsTer2
XM_017008164.2:c.1300del	XP_016863653.1:p.Glu434LysfsTer2
XM_017008165.2:c.1279del	XP_016863654.1:p.Glu427LysfsTer2
XM_017008166.2:c.1300del	XP_016863655.1:p.Glu434LysfsTer2