Canonical Allele Identifier: CA1619379506

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951825_31951826delinsAG , CM000668.2:g.31951825_31951826delinsAG	GRCh38
NC_000006.11:g.31919602_31919603delinsAG , CM000668.1:g.31919602_31919603delinsAG	GRCh37
NC_000006.10:g.32027581_32027582delinsAG	NCBI36
NG_008191.1:g.10882_10883delinsAG , LRG_136:g.10882_10883delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2574-50_2574-49delinsAG
ENST00000483004.2:c.1924-50_1924-49delinsAG	ENSP00000419887.2:n.1924-50_1924-49delins...
ENST00000698628.1:c.1909-50_1909-49delinsAG	ENSP00000513848.1:n.1909-50_1909-49delins...
ENST00000698629.1:n.2359-50_2359-49delinsAG
ENST00000698630.1:n.2856-50_2856-49delinsAG
ENST00000698631.1:n.2857-50_2857-49delinsAG
ENST00000698632.1:n.3945-50_3945-49delinsAG
ENST00000698633.1:n.3835-50_3835-49delinsAG
ENST00000425368.7:c.2140-50_2140-49delinsAG MANE Select	ENSP00000416561.2:n.2140-50_2140-49delins...
ENST00000425368.6:c.2140-50_2140-49delinsAG	ENSP00000416561.2:n.2140-50_2140-49delins...
ENST00000456570.5:c.3646-50_3646-49delinsAG	ENSP00000410815.1:n.3646-50_3646-49delins...
ENST00000477310.1:c.3193-50_3193-49delinsAG	ENSP00000418996.1:n.3193-50_3193-49delins...
ENST00000482312.1:n.555-50_555-49delinsAG
ENST00000483004.1:c.762-50_762-49delinsAG
ENST00000498317.1:c.330_331delinsAG
NM_001710.5:c.2140-50_2140-49delinsAG , LRG_136t1:c.2140-50_2140-49delinsAG	NP_001701.2:n.2140-50_2140-49delinsAG
NM_001710.6:c.2140-50_2140-49delinsAG MANE Select	NP_001701.2:n.2140-50_2140-49delinsAG