Canonical Allele Identifier: CA2533375328
Gene: CFI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109757537_109757540del , CM000666.2:g.109757537_109757540del GRCh38
NC_000004.11:g.110678693_110678696del , CM000666.1:g.110678693_110678696del GRCh37
NC_000004.10:g.110898142_110898145del NCBI36
NG_007569.1:g.49446_49449del , LRG_48:g.49446_49449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695844.1:n.1083+223_1083+226del
ENST00000695845.1:n.1082+223_1082+226del
ENST00000695846.1:n.928+223_928+226del
ENST00000394634.7:c.904+223_904+226del MANE Select ENSP00000378130.2:n.904+223_904+226del
ENST00000394635.8:c.928+223_928+226del ENSP00000378131.3:n.928+223_928+226del
ENST00000645635.1:c.904+223_904+226del ENSP00000493607.1:n.904+223_904+226del
ENST00000394634.6:c.904+223_904+226del ENSP00000378130.2:n.904+223_904+226del
ENST00000394635.7:c.928+223_928+226del ENSP00000378131.3:n.928+223_928+226del
ENST00000504853.3:n.1321+223_1321+226del
ENST00000512148.5:c.883+2730_883+2733del ENSP00000427438.1:n.883+2730_883+2733del
ENST00000618244.4:c.904+223_904+226del ENSP00000483416.1:n.904+223_904+226del
NM_000204.3:c.904+223_904+226del , LRG_48t1:c.904+223_904+226del NP_000195.2:n.904+223_904+226del
XM_005262975.1:c.928+223_928+226del XP_005263032.1:n.928+223_928+226del
XM_005262976.1:c.883+2730_883+2733del XP_005263033.1:n.883+2730_883+2733del
XM_006714209.1:c.925+223_925+226del XP_006714272.1:n.925+223_925+226del
XM_006714210.2:c.928+223_928+226del XP_006714273.1:n.928+223_928+226del
XM_011531920.1:c.928+223_928+226del XP_011530222.1:n.928+223_928+226del
NM_000204.4:c.904+223_904+226del NP_000195.2:n.904+223_904+226del
NM_001318057.1:c.928+223_928+226del NP_001304986.1:n.928+223_928+226del
NM_001331035.1:c.883+2730_883+2733del NP_001317964.1:n.883+2730_883+2733del
XM_006714210.4:c.928+223_928+226del XP_006714273.1:n.928+223_928+226del
XM_011531920.2:c.928+223_928+226del XP_011530222.1:n.928+223_928+226del
XM_017008164.2:c.904+223_904+226del XP_016863653.1:n.904+223_904+226del
XM_017008165.2:c.883+2730_883+2733del XP_016863654.1:n.883+2730_883+2733del
XM_017008166.2:c.904+223_904+226del XP_016863655.1:n.904+223_904+226del
NM_001318057.2:c.928+223_928+226del NP_001304986.2:n.928+223_928+226del
NM_001331035.2:c.883+2730_883+2733del NP_001317964.1:n.883+2730_883+2733del
NM_001375278.1:c.928+223_928+226del NP_001362207.1:n.928+223_928+226del
NM_001375279.1:c.904+223_904+226del NP_001362208.1:n.904+223_904+226del
NM_001375280.1:c.883+2730_883+2733del NP_001362209.1:n.883+2730_883+2733del
NM_001375281.1:c.904+223_904+226del NP_001362210.1:n.904+223_904+226del
NM_001375282.1:c.883+2730_883+2733del NP_001362211.1:n.883+2730_883+2733del
NM_001375283.1:c.883+2730_883+2733del NP_001362212.1:n.883+2730_883+2733del
NM_001375284.1:c.295+223_295+226del NP_001362213.1:n.295+223_295+226del
NR_164671.1:n.932+223_932+226del
NR_164672.1:n.956+223_956+226del
NR_164673.1:n.932+223_932+226del
NM_000204.5:c.904+223_904+226del MANE Select NP_000195.3:n.904+223_904+226del