Canonical Allele Identifier: CA2531075951
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109740908_109740909insAGTTACAACTAATT , CM000666.2:g.109740908_109740909insAGTTACAACTAATT GRCh38
NC_000004.11:g.110662064_110662065insAGTTACAACTAATT , CM000666.1:g.110662064_110662065insAGTTACAACTAATT GRCh37
NC_000004.10:g.110881513_110881514insAGTTACAACTAATT NCBI36
NG_007569.1:g.66077_66078insAATTAGTTGTAACT , LRG_48:g.66077_66078insAATTAGTTGTAACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1713+1582_1713+1583insAATTAGTTGTAACT
ENST00000695845.1:n.1712+1582_1712+1583insAATTAGTTGTAACT
ENST00000695846.1:n.1760_1761insAATTAGTTGTAACT
ENST00000394634.7:c.1736_1737insAATTAGTTGTAACT MANE Select ENSP00000378130.2:p.Gln580IlefsTer?
ENST00000394635.8:c.1760_1761insAATTAGTTGTAACT ENSP00000378131.3:p.Gln588IlefsTer?
ENST00000645635.1:c.1534+1582_1534+1583insAATTAGTTGTAACT ENSP00000493607.1:n.1534+1582_1534+1583insAATTAGTTGTAACT
ENST00000394634.6:c.1736_1737insAATTAGTTGTAACT ENSP00000378130.2:p.Gln580IlefsTer?
ENST00000394635.7:c.1760_1761insAATTAGTTGTAACT ENSP00000378131.3:p.Gln588IlefsTer?
ENST00000504853.3:n.2153_2154insAATTAGTTGTAACT
ENST00000512148.5:c.1715_1716insAATTAGTTGTAACT ENSP00000427438.1:p.Gln573IlefsTer?
ENST00000618244.4:c.1045-104_1045-103insAATTAGTTGTAACT ENSP00000483416.1:n.1045-104_1045-103insAATTAGTTGTAACT
NM_000204.3:c.1736_1737insAATTAGTTGTAACT , LRG_48t1:c.1736_1737insAATTAGTTGTAACT NP_000195.2:p.Gln580IlefsTer?
XM_005262975.1:c.1760_1761insAATTAGTTGTAACT XP_005263032.1:p.Gln588IlefsTer?
XM_005262976.1:c.1715_1716insAATTAGTTGTAACT XP_005263033.1:p.Gln573IlefsTer?
XM_006714209.1:c.1757_1758insAATTAGTTGTAACT XP_006714272.1:p.Gln587IlefsTer?
XM_011531920.1:c.1558+1582_1558+1583insAATTAGTTGTAACT XP_011530222.1:n.1558+1582_1558+1583insAATTAGTTGTAACT
NM_000204.4:c.1736_1737insAATTAGTTGTAACT NP_000195.2:p.Gln580IlefsTer?
NM_001318057.1:c.1760_1761insAATTAGTTGTAACT NP_001304986.1:p.Gln588IlefsTer?
NM_001331035.1:c.1715_1716insAATTAGTTGTAACT NP_001317964.1:p.Gln573IlefsTer?
XM_011531920.2:c.1558+1582_1558+1583insAATTAGTTGTAACT XP_011530222.1:n.1558+1582_1558+1583insAATTAGTTGTAACT
XM_017008164.2:c.1534+1582_1534+1583insAATTAGTTGTAACT XP_016863653.1:n.1534+1582_1534+1583insAATTAGTTGTAACT
XM_017008165.2:c.1513+1582_1513+1583insAATTAGTTGTAACT XP_016863654.1:n.1513+1582_1513+1583insAATTAGTTGTAACT
XM_017008166.2:c.1534+1582_1534+1583insAATTAGTTGTAACT XP_016863655.1:n.1534+1582_1534+1583insAATTAGTTGTAACT
NM_001318057.2:c.1760_1761insAATTAGTTGTAACT NP_001304986.2:p.Gln588IlefsTer?
NM_001331035.2:c.1715_1716insAATTAGTTGTAACT NP_001317964.1:p.Gln573IlefsTer?
NM_001375278.1:c.1558+1582_1558+1583insAATTAGTTGTAACT NP_001362207.1:n.1558+1582_1558+1583insAATTAGTTGTAACT
NM_001375279.1:c.1534+1582_1534+1583insAATTAGTTGTAACT NP_001362208.1:n.1534+1582_1534+1583insAATTAGTTGTAACT
NM_001375280.1:c.1513+1582_1513+1583insAATTAGTTGTAACT NP_001362209.1:n.1513+1582_1513+1583insAATTAGTTGTAACT
NM_001375281.1:c.1534+1582_1534+1583insAATTAGTTGTAACT NP_001362210.1:n.1534+1582_1534+1583insAATTAGTTGTAACT
NM_001375282.1:c.1513+1582_1513+1583insAATTAGTTGTAACT NP_001362211.1:n.1513+1582_1513+1583insAATTAGTTGTAACT
NM_001375283.1:c.1679_1680insAATTAGTTGTAACT NP_001362212.1:p.Gln561IlefsTer?
NM_001375284.1:c.1127_1128insAATTAGTTGTAACT NP_001362213.1:p.Gln377IlefsTer?
NR_164671.1:n.1483_1484insAATTAGTTGTAACT
NR_164672.1:n.1786_1787insAATTAGTTGTAACT
NR_164673.1:n.1760_1761insAATTAGTTGTAACT
NM_000204.5:c.1736_1737insAATTAGTTGTAACT MANE Select NP_000195.3:p.Gln580IlefsTer?