Canonical Allele Identifier: CA1484704772
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109740795_109740796delinsAT , CM000666.2:g.109740795_109740796delinsAT GRCh38
NC_000004.11:g.110661951_110661952delinsAT , CM000666.1:g.110661951_110661952delinsAT GRCh37
NC_000004.10:g.110881400_110881401delinsAT NCBI36
NG_007569.1:g.66190_66191delinsAT , LRG_48:g.66190_66191delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1713+1695_1713+1696delinsAT
ENST00000695845.1:n.1712+1695_1712+1696delinsAT
ENST00000695846.1:n.1873_1874delinsAT
ENST00000394634.7:c.*97_*98delinsAT MANE Select ENSP00000378130.2:n.*97_*98delinsAT
ENST00000394635.8:c.*97_*98delinsAT ENSP00000378131.3:n.*97_*98delinsAT
ENST00000645635.1:c.1534+1695_1534+1696delinsAT ENSP00000493607.1:n.1534+1695_1534+1696delinsAT
ENST00000394634.6:c.*97_*98delinsAT ENSP00000378130.2:n.*97_*98delinsAT
ENST00000394635.7:c.*97_*98delinsAT ENSP00000378131.3:n.*97_*98delinsAT
ENST00000504853.3:n.2266_2267delinsAT
ENST00000512148.5:c.*97_*98delinsAT ENSP00000427438.1:n.*97_*98delinsAT
ENST00000618244.4:c.1054_1055delinsAT ENSP00000483416.1:p.Met352=
NM_000204.3:c.*97_*98delinsAT , LRG_48t1:c.*97_*98delinsAT NP_000195.2:n.*97_*98delinsAT
XM_005262975.1:c.*97_*98delinsAT XP_005263032.1:n.*97_*98delinsAT
XM_005262976.1:c.*97_*98delinsAT XP_005263033.1:n.*97_*98delinsAT
XM_006714209.1:c.*97_*98delinsAT XP_006714272.1:n.*97_*98delinsAT
XM_011531920.1:c.1558+1695_1558+1696delinsAT XP_011530222.1:n.1558+1695_1558+1696delinsAT
NM_000204.4:c.*97_*98delinsAT NP_000195.2:n.*97_*98delinsAT
NM_001318057.1:c.*97_*98delinsAT NP_001304986.1:n.*97_*98delinsAT
NM_001331035.1:c.*97_*98delinsAT NP_001317964.1:n.*97_*98delinsAT
XM_011531920.2:c.1558+1695_1558+1696delinsAT XP_011530222.1:n.1558+1695_1558+1696delinsAT
XM_017008164.2:c.1534+1695_1534+1696delinsAT XP_016863653.1:n.1534+1695_1534+1696delinsAT
XM_017008165.2:c.1513+1695_1513+1696delinsAT XP_016863654.1:n.1513+1695_1513+1696delinsAT
XM_017008166.2:c.1534+1695_1534+1696delinsAT XP_016863655.1:n.1534+1695_1534+1696delinsAT
NM_001318057.2:c.*97_*98delinsAT NP_001304986.2:n.*97_*98delinsAT
NM_001331035.2:c.*97_*98delinsAT NP_001317964.1:n.*97_*98delinsAT
NM_001375278.1:c.1558+1695_1558+1696delinsAT NP_001362207.1:n.1558+1695_1558+1696delinsAT
NM_001375279.1:c.1534+1695_1534+1696delinsAT NP_001362208.1:n.1534+1695_1534+1696delinsAT
NM_001375280.1:c.1513+1695_1513+1696delinsAT NP_001362209.1:n.1513+1695_1513+1696delinsAT
NM_001375281.1:c.1534+1695_1534+1696delinsAT NP_001362210.1:n.1534+1695_1534+1696delinsAT
NM_001375282.1:c.1513+1695_1513+1696delinsAT NP_001362211.1:n.1513+1695_1513+1696delinsAT
NM_001375283.1:c.*97_*98delinsAT NP_001362212.1:n.*97_*98delinsAT
NM_001375284.1:c.*97_*98delinsAT NP_001362213.1:n.*97_*98delinsAT
NR_164671.1:n.1596_1597delinsAT
NR_164672.1:n.1899_1900delinsAT
NR_164673.1:n.1873_1874delinsAT
NM_000204.5:c.*97_*98delinsAT MANE Select NP_000195.3:n.*97_*98delinsAT