Canonical Allele Identifier: CA1484702741

Gene: CFI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109737907_109737908delinsCT , CM000666.2:g.109737907_109737908delinsCT	GRCh38
NC_000004.11:g.110659063_110659064delinsCT , CM000666.1:g.110659063_110659064delinsCT	GRCh37
NC_000004.10:g.110878512_110878513delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000695844.1:n.1714-3112_1714-3111delinsAG
ENST00000695845.1:n.1712+4583_1712+4584delinsAG
ENST00000645635.1:c.1534+4583_1534+4584delinsAG	ENSP00000493607.1:n.1534+4583_1534+4584delinsAG
XM_011531920.1:c.1558+4583_1558+4584delinsAG	XP_011530222.1:n.1558+4583_1558+4584delinsAG
XM_011531920.2:c.1558+4583_1558+4584delinsAG	XP_011530222.1:n.1558+4583_1558+4584delinsAG
XM_017008164.2:c.1534+4583_1534+4584delinsAG	XP_016863653.1:n.1534+4583_1534+4584delinsAG
XM_017008165.2:c.1513+4583_1513+4584delinsAG	XP_016863654.1:n.1513+4583_1513+4584delinsAG
XM_017008166.2:c.1535-3108_1535-3107delinsAG	XP_016863655.1:n.1535-3108_1535-3107delinsAG
NM_001375278.1:c.1559-3112_1559-3111delinsAG	NP_001362207.1:n.1559-3112_1559-3111delinsAG
NM_001375279.1:c.1535-3112_1535-3111delinsAG	NP_001362208.1:n.1535-3112_1535-3111delinsAG
NM_001375280.1:c.1514-3112_1514-3111delinsAG	NP_001362209.1:n.1514-3112_1514-3111delinsAG
NM_001375281.1:c.1534+4583_1534+4584delinsAG	NP_001362210.1:n.1534+4583_1534+4584delinsAG
NM_001375282.1:c.1513+4583_1513+4584delinsAG	NP_001362211.1:n.1513+4583_1513+4584delinsAG