Canonical Allele Identifier: CA1484705019

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740993_109740995delinsCCA , CM000666.2:g.109740993_109740995delinsCCA	GRCh38
NC_000004.11:g.110662149_110662151delinsCCA , CM000666.1:g.110662149_110662151delinsCCA	GRCh37
NC_000004.10:g.110881598_110881600delinsCCA	NCBI36
NG_007569.1:g.65991_65993delinsTGG , LRG_48:g.65991_65993delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1496_1713+1498delinsTGG
ENST00000695845.1:n.1712+1496_1712+1498delinsTGG
ENST00000695846.1:n.1674_1676delinsTGG
ENST00000394634.7:c.1650_1652delinsTGG MANE Select	ENSP00000378130.2:p.Cys550=
ENST00000394635.8:c.1674_1676delinsTGG	ENSP00000378131.3:p.Cys558=
ENST00000645635.1:c.1534+1496_1534+1498delinsTGG	ENSP00000493607.1:n.1534+1496_1534+1498delinsTGG
ENST00000394634.6:c.1650_1652delinsTGG	ENSP00000378130.2:p.Cys550=
ENST00000394635.7:c.1674_1676delinsTGG	ENSP00000378131.3:p.Cys558=
ENST00000504853.3:n.2067_2069delinsTGG
ENST00000512148.5:c.1629_1631delinsTGG	ENSP00000427438.1:p.Cys543=
ENST00000618244.4:c.1045-190_1045-188delinsTGG	ENSP00000483416.1:n.1045-190_1045-188delinsTGG
NM_000204.3:c.1650_1652delinsTGG , LRG_48t1:c.1650_1652delinsTGG	NP_000195.2:p.Cys550=
XM_005262975.1:c.1674_1676delinsTGG	XP_005263032.1:p.Cys558=
XM_005262976.1:c.1629_1631delinsTGG	XP_005263033.1:p.Cys543=
XM_006714209.1:c.1671_1673delinsTGG	XP_006714272.1:p.Cys557=
XM_011531920.1:c.1558+1496_1558+1498delinsTGG	XP_011530222.1:n.1558+1496_1558+1498delinsTGG
NM_000204.4:c.1650_1652delinsTGG	NP_000195.2:p.Cys550=
NM_001318057.1:c.1674_1676delinsTGG	NP_001304986.1:p.Cys558=
NM_001331035.1:c.1629_1631delinsTGG	NP_001317964.1:p.Cys543=
XM_011531920.2:c.1558+1496_1558+1498delinsTGG	XP_011530222.1:n.1558+1496_1558+1498delinsTGG
XM_017008164.2:c.1534+1496_1534+1498delinsTGG	XP_016863653.1:n.1534+1496_1534+1498delinsTGG
XM_017008165.2:c.1513+1496_1513+1498delinsTGG	XP_016863654.1:n.1513+1496_1513+1498delinsTGG
XM_017008166.2:c.1534+1496_1534+1498delinsTGG	XP_016863655.1:n.1534+1496_1534+1498delinsTGG
NM_001318057.2:c.1674_1676delinsTGG	NP_001304986.2:p.Cys558=
NM_001331035.2:c.1629_1631delinsTGG	NP_001317964.1:p.Cys543=
NM_001375278.1:c.1558+1496_1558+1498delinsTGG	NP_001362207.1:n.1558+1496_1558+1498delinsTGG
NM_001375279.1:c.1534+1496_1534+1498delinsTGG	NP_001362208.1:n.1534+1496_1534+1498delinsTGG
NM_001375280.1:c.1513+1496_1513+1498delinsTGG	NP_001362209.1:n.1513+1496_1513+1498delinsTGG
NM_001375281.1:c.1534+1496_1534+1498delinsTGG	NP_001362210.1:n.1534+1496_1534+1498delinsTGG
NM_001375282.1:c.1513+1496_1513+1498delinsTGG	NP_001362211.1:n.1513+1496_1513+1498delinsTGG
NM_001375283.1:c.1593_1595delinsTGG	NP_001362212.1:p.Cys531=
NM_001375284.1:c.1041_1043delinsTGG	NP_001362213.1:p.Cys347=
NR_164671.1:n.1397_1399delinsTGG
NR_164672.1:n.1700_1702delinsTGG
NR_164673.1:n.1674_1676delinsTGG
NM_000204.5:c.1650_1652delinsTGG MANE Select	NP_000195.3:p.Cys550=