Canonical Allele Identifier: CA2671741489

Gene: CFI

Linked Data

• gnomAD v4: 4-109740854-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740859_109740860del , CM000666.2:g.109740859_109740860del	GRCh38
NC_000004.11:g.110662015_110662016del , CM000666.1:g.110662015_110662016del	GRCh37
NC_000004.10:g.110881464_110881465del	NCBI36
NG_007569.1:g.66130_66131del , LRG_48:g.66130_66131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1635_1713+1636del
ENST00000695845.1:n.1712+1635_1712+1636del
ENST00000695846.1:n.1813_1814del
ENST00000394634.7:c.*37_*38del MANE Select	ENSP00000378130.2:n.*37_*38del
ENST00000394635.8:c.*37_*38del	ENSP00000378131.3:n.*37_*38del
ENST00000645635.1:c.1534+1635_1534+1636del	ENSP00000493607.1:n.1534+1635_1534+1636del
ENST00000394634.6:c.*37_*38del	ENSP00000378130.2:n.*37_*38del
ENST00000394635.7:c.*37_*38del	ENSP00000378131.3:n.*37_*38del
ENST00000504853.3:n.2206_2207del
ENST00000512148.5:c.*37_*38del	ENSP00000427438.1:n.*37_*38del
ENST00000618244.4:c.1045-51_1045-50del	ENSP00000483416.1:n.1045-51_1045-50del
NM_000204.3:c.*37_*38del , LRG_48t1:c.*37_*38del	NP_000195.2:n.*37_*38del
XM_005262975.1:c.*37_*38del	XP_005263032.1:n.*37_*38del
XM_005262976.1:c.*37_*38del	XP_005263033.1:n.*37_*38del
XM_006714209.1:c.*37_*38del	XP_006714272.1:n.*37_*38del
XM_011531920.1:c.1558+1635_1558+1636del	XP_011530222.1:n.1558+1635_1558+1636del
NM_000204.4:c.*37_*38del	NP_000195.2:n.*37_*38del
NM_001318057.1:c.*37_*38del	NP_001304986.1:n.*37_*38del
NM_001331035.1:c.*37_*38del	NP_001317964.1:n.*37_*38del
XM_011531920.2:c.1558+1635_1558+1636del	XP_011530222.1:n.1558+1635_1558+1636del
XM_017008164.2:c.1534+1635_1534+1636del	XP_016863653.1:n.1534+1635_1534+1636del
XM_017008165.2:c.1513+1635_1513+1636del	XP_016863654.1:n.1513+1635_1513+1636del
XM_017008166.2:c.1534+1635_1534+1636del	XP_016863655.1:n.1534+1635_1534+1636del
NM_001318057.2:c.*37_*38del	NP_001304986.2:n.*37_*38del
NM_001331035.2:c.*37_*38del	NP_001317964.1:n.*37_*38del
NM_001375278.1:c.1558+1635_1558+1636del	NP_001362207.1:n.1558+1635_1558+1636del
NM_001375279.1:c.1534+1635_1534+1636del	NP_001362208.1:n.1534+1635_1534+1636del
NM_001375280.1:c.1513+1635_1513+1636del	NP_001362209.1:n.1513+1635_1513+1636del
NM_001375281.1:c.1534+1635_1534+1636del	NP_001362210.1:n.1534+1635_1534+1636del
NM_001375282.1:c.1513+1635_1513+1636del	NP_001362211.1:n.1513+1635_1513+1636del
NM_001375283.1:c.*37_*38del	NP_001362212.1:n.*37_*38del
NM_001375284.1:c.*37_*38del	NP_001362213.1:n.*37_*38del
NR_164671.1:n.1536_1537del
NR_164672.1:n.1839_1840del
NR_164673.1:n.1813_1814del
NM_000204.5:c.*37_*38del MANE Select	NP_000195.3:n.*37_*38del