Canonical Allele Identifier: CA2506979808

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109746309_109746310insGATTT , CM000666.2:g.109746309_109746310insGATTT	GRCh38
NC_000004.11:g.110667465_110667466insGATTT , CM000666.1:g.110667465_110667466insGATTT	GRCh37
NC_000004.10:g.110886914_110886915insGATTT	NCBI36
NG_007569.1:g.60676_60677insAAATC , LRG_48:g.60676_60677insAAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1520_1521insAAATC
ENST00000695845.1:n.1519_1520insAAATC
ENST00000695846.1:n.1365_1366insAAATC
ENST00000394634.7:c.1341_1342insAAATC MANE Select	ENSP00000378130.2:p.Arg448LysfsTer?
ENST00000394635.8:c.1365_1366insAAATC	ENSP00000378131.3:p.Arg456LysfsTer?
ENST00000645635.1:c.1341_1342insAAATC	ENSP00000493607.1:p.Arg448LysfsTer?
ENST00000394634.6:c.1341_1342insAAATC	ENSP00000378130.2:p.Arg448LysfsTer?
ENST00000394635.7:c.1365_1366insAAATC	ENSP00000378131.3:p.Arg456LysfsTer?
ENST00000504853.3:n.1758_1759insAAATC
ENST00000512148.5:c.1320_1321insAAATC	ENSP00000427438.1:p.Arg441LysfsTer?
ENST00000618244.4:c.1044+3189_1044+3190insAAATC	ENSP00000483416.1:n.1044+3189_1044+3190insAAATC
NM_000204.3:c.1341_1342insAAATC , LRG_48t1:c.1341_1342insAAATC	NP_000195.2:p.Arg448LysfsTer?
XM_005262975.1:c.1365_1366insAAATC	XP_005263032.1:p.Arg456LysfsTer?
XM_005262976.1:c.1320_1321insAAATC	XP_005263033.1:p.Arg441LysfsTer?
XM_006714209.1:c.1362_1363insAAATC	XP_006714272.1:p.Arg455LysfsTer?
XM_006714210.2:c.1365_1366insAAATC	XP_006714273.1:p.Arg456LysfsTer?
XM_011531920.1:c.1365_1366insAAATC	XP_011530222.1:p.Arg456LysfsTer?
NM_000204.4:c.1341_1342insAAATC	NP_000195.2:p.Arg448LysfsTer?
NM_001318057.1:c.1365_1366insAAATC	NP_001304986.1:p.Arg456LysfsTer?
NM_001331035.1:c.1320_1321insAAATC	NP_001317964.1:p.Arg441LysfsTer?
XM_006714210.4:c.1365_1366insAAATC	XP_006714273.1:p.Arg456LysfsTer?
XM_011531920.2:c.1365_1366insAAATC	XP_011530222.1:p.Arg456LysfsTer?
XM_017008164.2:c.1341_1342insAAATC	XP_016863653.1:p.Arg448LysfsTer?
XM_017008165.2:c.1320_1321insAAATC	XP_016863654.1:p.Arg441LysfsTer?
XM_017008166.2:c.1341_1342insAAATC	XP_016863655.1:p.Arg448LysfsTer?
NM_001318057.2:c.1365_1366insAAATC	NP_001304986.2:p.Arg456LysfsTer?
NM_001331035.2:c.1320_1321insAAATC	NP_001317964.1:p.Arg441LysfsTer?
NM_001375278.1:c.1365_1366insAAATC	NP_001362207.1:p.Arg456LysfsTer?
NM_001375279.1:c.1341_1342insAAATC	NP_001362208.1:p.Arg448LysfsTer?
NM_001375280.1:c.1320_1321insAAATC	NP_001362209.1:p.Arg441LysfsTer?
NM_001375281.1:c.1341_1342insAAATC	NP_001362210.1:p.Arg448LysfsTer?
NM_001375282.1:c.1320_1321insAAATC	NP_001362211.1:p.Arg441LysfsTer?
NM_001375283.1:c.1284_1285insAAATC	NP_001362212.1:p.Arg429LysfsTer?
NM_001375284.1:c.732_733insAAATC	NP_001362213.1:p.Arg245LysfsTer?
NR_164671.1:n.1176+2908_1176+2909insAAATC
NR_164672.1:n.1391_1392insAAATC
NR_164673.1:n.1365_1366insAAATC
NM_000204.5:c.1341_1342insAAATC MANE Select	NP_000195.3:p.Arg448LysfsTer?