Canonical Allele Identifier: CA1484702696

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109737798_109737799delinsTC , CM000666.2:g.109737798_109737799delinsTC	GRCh38
NC_000004.11:g.110658954_110658955delinsTC , CM000666.1:g.110658954_110658955delinsTC	GRCh37
NC_000004.10:g.110878403_110878404delinsTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1714-3003_1714-3002delinsGA
ENST00000695845.1:n.1712+4692_1712+4693delinsGA
ENST00000645635.1:c.1534+4692_1534+4693delinsGA	ENSP00000493607.1:n.1534+4692_1534+4693delinsGA
XM_011531920.1:c.1558+4692_1558+4693delinsGA	XP_011530222.1:n.1558+4692_1558+4693delinsGA
XM_011531920.2:c.1558+4692_1558+4693delinsGA	XP_011530222.1:n.1558+4692_1558+4693delinsGA
XM_017008164.2:c.1534+4692_1534+4693delinsGA	XP_016863653.1:n.1534+4692_1534+4693delinsGA
XM_017008165.2:c.1513+4692_1513+4693delinsGA	XP_016863654.1:n.1513+4692_1513+4693delinsGA
XM_017008166.2:c.1535-2999_1535-2998delinsGA	XP_016863655.1:n.1535-2999_1535-2998delinsGA
NM_001375278.1:c.1559-3003_1559-3002delinsGA	NP_001362207.1:n.1559-3003_1559-3002delinsGA
NM_001375279.1:c.1535-3003_1535-3002delinsGA	NP_001362208.1:n.1535-3003_1535-3002delinsGA
NM_001375280.1:c.1514-3003_1514-3002delinsGA	NP_001362209.1:n.1514-3003_1514-3002delinsGA
NM_001375281.1:c.1534+4692_1534+4693delinsGA	NP_001362210.1:n.1534+4692_1534+4693delinsGA
NM_001375282.1:c.1513+4692_1513+4693delinsGA	NP_001362211.1:n.1513+4692_1513+4693delinsGA