Canonical Allele Identifier: CA2695203757

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741035_109741036insTA , CM000666.2:g.109741035_109741036insTA	GRCh38
NC_000004.11:g.110662191_110662192insTA , CM000666.1:g.110662191_110662192insTA	GRCh37
NC_000004.10:g.110881640_110881641insTA	NCBI36
NG_007569.1:g.65951_65952insAT , LRG_48:g.65951_65952insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1456_1713+1457insAT
ENST00000695845.1:n.1712+1456_1712+1457insAT
ENST00000695846.1:n.1634_1635insAT
ENST00000394634.7:c.1610_1611insAT MANE Select	ENSP00000378130.2:p.Thr538Ter
ENST00000394635.8:c.1634_1635insAT	ENSP00000378131.3:p.Thr546Ter
ENST00000645635.1:c.1534+1456_1534+1457insAT	ENSP00000493607.1:n.1534+1456_1534+1457insAT
ENST00000394634.6:c.1610_1611insAT	ENSP00000378130.2:p.Thr538Ter
ENST00000394635.7:c.1634_1635insAT	ENSP00000378131.3:p.Thr546Ter
ENST00000504853.3:n.2027_2028insAT
ENST00000512148.5:c.1589_1590insAT	ENSP00000427438.1:p.Thr531Ter
ENST00000618244.4:c.1045-230_1045-229insAT	ENSP00000483416.1:n.1045-230_1045-229insAT
NM_000204.3:c.1610_1611insAT , LRG_48t1:c.1610_1611insAT	NP_000195.2:p.Thr538Ter
XM_005262975.1:c.1634_1635insAT	XP_005263032.1:p.Thr546Ter
XM_005262976.1:c.1589_1590insAT	XP_005263033.1:p.Thr531Ter
XM_006714209.1:c.1631_1632insAT	XP_006714272.1:p.Thr545Ter
XM_011531920.1:c.1558+1456_1558+1457insAT	XP_011530222.1:n.1558+1456_1558+1457insAT
NM_000204.4:c.1610_1611insAT	NP_000195.2:p.Thr538Ter
NM_001318057.1:c.1634_1635insAT	NP_001304986.1:p.Thr546Ter
NM_001331035.1:c.1589_1590insAT	NP_001317964.1:p.Thr531Ter
XM_011531920.2:c.1558+1456_1558+1457insAT	XP_011530222.1:n.1558+1456_1558+1457insAT
XM_017008164.2:c.1534+1456_1534+1457insAT	XP_016863653.1:n.1534+1456_1534+1457insAT
XM_017008165.2:c.1513+1456_1513+1457insAT	XP_016863654.1:n.1513+1456_1513+1457insAT
XM_017008166.2:c.1534+1456_1534+1457insAT	XP_016863655.1:n.1534+1456_1534+1457insAT
NM_001318057.2:c.1634_1635insAT	NP_001304986.2:p.Thr546Ter
NM_001331035.2:c.1589_1590insAT	NP_001317964.1:p.Thr531Ter
NM_001375278.1:c.1558+1456_1558+1457insAT	NP_001362207.1:n.1558+1456_1558+1457insAT
NM_001375279.1:c.1534+1456_1534+1457insAT	NP_001362208.1:n.1534+1456_1534+1457insAT
NM_001375280.1:c.1513+1456_1513+1457insAT	NP_001362209.1:n.1513+1456_1513+1457insAT
NM_001375281.1:c.1534+1456_1534+1457insAT	NP_001362210.1:n.1534+1456_1534+1457insAT
NM_001375282.1:c.1513+1456_1513+1457insAT	NP_001362211.1:n.1513+1456_1513+1457insAT
NM_001375283.1:c.1553_1554insAT	NP_001362212.1:p.Thr519Ter
NM_001375284.1:c.1001_1002insAT	NP_001362213.1:p.Thr335Ter
NR_164671.1:n.1357_1358insAT
NR_164672.1:n.1660_1661insAT
NR_164673.1:n.1634_1635insAT
NM_000204.5:c.1610_1611insAT MANE Select	NP_000195.3:p.Thr538Ter