Canonical Allele Identifier: CA2671741613

Gene: CFI

Linked Data

• gnomAD v4: 4-109741042-TGGCATCCATACAGACTAAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109741046_109741065del , CM000666.2:g.109741046_109741065del	GRCh38
NC_000004.11:g.110662202_110662221del , CM000666.1:g.110662202_110662221del	GRCh37
NC_000004.10:g.110881651_110881670del	NCBI36
NG_007569.1:g.65924_65943del , LRG_48:g.65924_65943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1429_1713+1448del
ENST00000695845.1:n.1712+1429_1712+1448del
ENST00000695846.1:n.1607_1626del
ENST00000394634.7:c.1583_1602del MANE Select	ENSP00000378130.2:p.Pro528GlnfsTer?
ENST00000394635.8:c.1607_1626del	ENSP00000378131.3:p.Pro536GlnfsTer?
ENST00000645635.1:c.1534+1429_1534+1448del	ENSP00000493607.1:n.1534+1429_1534+1448del
ENST00000394634.6:c.1583_1602del	ENSP00000378130.2:p.Pro528GlnfsTer?
ENST00000394635.7:c.1607_1626del	ENSP00000378131.3:p.Pro536GlnfsTer?
ENST00000504853.3:n.2000_2019del
ENST00000512148.5:c.1562_1581del	ENSP00000427438.1:p.Pro521GlnfsTer?
ENST00000618244.4:c.1045-257_1045-238del	ENSP00000483416.1:n.1045-257_1045-238del
NM_000204.3:c.1583_1602del , LRG_48t1:c.1583_1602del	NP_000195.2:p.Pro528GlnfsTer?
XM_005262975.1:c.1607_1626del	XP_005263032.1:p.Pro536GlnfsTer?
XM_005262976.1:c.1562_1581del	XP_005263033.1:p.Pro521GlnfsTer?
XM_006714209.1:c.1604_1623del	XP_006714272.1:p.Pro535GlnfsTer?
XM_011531920.1:c.1558+1429_1558+1448del	XP_011530222.1:n.1558+1429_1558+1448del
NM_000204.4:c.1583_1602del	NP_000195.2:p.Pro528GlnfsTer?
NM_001318057.1:c.1607_1626del	NP_001304986.1:p.Pro536GlnfsTer?
NM_001331035.1:c.1562_1581del	NP_001317964.1:p.Pro521GlnfsTer?
XM_011531920.2:c.1558+1429_1558+1448del	XP_011530222.1:n.1558+1429_1558+1448del
XM_017008164.2:c.1534+1429_1534+1448del	XP_016863653.1:n.1534+1429_1534+1448del
XM_017008165.2:c.1513+1429_1513+1448del	XP_016863654.1:n.1513+1429_1513+1448del
XM_017008166.2:c.1534+1429_1534+1448del	XP_016863655.1:n.1534+1429_1534+1448del
NM_001318057.2:c.1607_1626del	NP_001304986.2:p.Pro536GlnfsTer?
NM_001331035.2:c.1562_1581del	NP_001317964.1:p.Pro521GlnfsTer?
NM_001375278.1:c.1558+1429_1558+1448del	NP_001362207.1:n.1558+1429_1558+1448del
NM_001375279.1:c.1534+1429_1534+1448del	NP_001362208.1:n.1534+1429_1534+1448del
NM_001375280.1:c.1513+1429_1513+1448del	NP_001362209.1:n.1513+1429_1513+1448del
NM_001375281.1:c.1534+1429_1534+1448del	NP_001362210.1:n.1534+1429_1534+1448del
NM_001375282.1:c.1513+1429_1513+1448del	NP_001362211.1:n.1513+1429_1513+1448del
NM_001375283.1:c.1526_1545del	NP_001362212.1:p.Pro509GlnfsTer?
NM_001375284.1:c.974_993del	NP_001362213.1:p.Pro325GlnfsTer?
NR_164671.1:n.1330_1349del
NR_164672.1:n.1633_1652del
NR_164673.1:n.1607_1626del
NM_000204.5:c.1583_1602del MANE Select	NP_000195.3:p.Pro528GlnfsTer?