Canonical Allele Identifier: CA1066623785

Gene: CFI

Linked Data

• dbSNP Id: rs1723673711
• gnomAD v3: 4-109740680-GATAA-G
• gnomAD v4: 4-109740680-GATAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740686_109740689del , CM000666.2:g.109740686_109740689del	GRCh38
NC_000004.11:g.110661842_110661845del , CM000666.1:g.110661842_110661845del	GRCh37
NC_000004.10:g.110881291_110881294del	NCBI36
NG_007569.1:g.66302_66305del , LRG_48:g.66302_66305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1807_1713+1810del
ENST00000695845.1:n.1712+1807_1712+1810del
ENST00000645635.1:c.1534+1807_1534+1810del	ENSP00000493607.1:n.1534+1807_1534+1810del
XM_011531920.1:c.1558+1807_1558+1810del	XP_011530222.1:n.1558+1807_1558+1810del
XM_011531920.2:c.1558+1807_1558+1810del	XP_011530222.1:n.1558+1807_1558+1810del
XM_017008164.2:c.1534+1807_1534+1810del	XP_016863653.1:n.1534+1807_1534+1810del
XM_017008165.2:c.1513+1807_1513+1810del	XP_016863654.1:n.1513+1807_1513+1810del
XM_017008166.2:c.1534+1807_1534+1810del	XP_016863655.1:n.1534+1807_1534+1810del
NM_001375278.1:c.1558+1807_1558+1810del	NP_001362207.1:n.1558+1807_1558+1810del
NM_001375279.1:c.1534+1807_1534+1810del	NP_001362208.1:n.1534+1807_1534+1810del
NM_001375280.1:c.1513+1807_1513+1810del	NP_001362209.1:n.1513+1807_1513+1810del
NM_001375281.1:c.1534+1807_1534+1810del	NP_001362210.1:n.1534+1807_1534+1810del
NM_001375282.1:c.1513+1807_1513+1810del	NP_001362211.1:n.1513+1807_1513+1810del