Canonical Allele Identifier: CA1484704506

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740542_109740543delinsAC , CM000666.2:g.109740542_109740543delinsAC	GRCh38
NC_000004.11:g.110661698_110661699delinsAC , CM000666.1:g.110661698_110661699delinsAC	GRCh37
NC_000004.10:g.110881147_110881148delinsAC	NCBI36
NG_007569.1:g.66443_66444delinsGT , LRG_48:g.66443_66444delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1948_1713+1949delinsGT
ENST00000695845.1:n.1712+1948_1712+1949delinsGT
ENST00000645635.1:c.1534+1948_1534+1949delinsGT	ENSP00000493607.1:n.1534+1948_1534+1949delinsGT
XM_011531920.1:c.1558+1948_1558+1949delinsGT	XP_011530222.1:n.1558+1948_1558+1949delinsGT
XM_011531920.2:c.1558+1948_1558+1949delinsGT	XP_011530222.1:n.1558+1948_1558+1949delinsGT
XM_017008164.2:c.1534+1948_1534+1949delinsGT	XP_016863653.1:n.1534+1948_1534+1949delinsGT
XM_017008165.2:c.1513+1948_1513+1949delinsGT	XP_016863654.1:n.1513+1948_1513+1949delinsGT
XM_017008166.2:c.1534+1948_1534+1949delinsGT	XP_016863655.1:n.1534+1948_1534+1949delinsGT
NM_001375278.1:c.1558+1948_1558+1949delinsGT	NP_001362207.1:n.1558+1948_1558+1949delinsGT
NM_001375279.1:c.1534+1948_1534+1949delinsGT	NP_001362208.1:n.1534+1948_1534+1949delinsGT
NM_001375280.1:c.1513+1948_1513+1949delinsGT	NP_001362209.1:n.1513+1948_1513+1949delinsGT
NM_001375281.1:c.1534+1948_1534+1949delinsGT	NP_001362210.1:n.1534+1948_1534+1949delinsGT
NM_001375282.1:c.1513+1948_1513+1949delinsGT	NP_001362211.1:n.1513+1948_1513+1949delinsGT