Canonical Allele Identifier: CA1619378888

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951102_31951105delinsCAGT , CM000668.2:g.31951102_31951105delinsCAGT	GRCh38
NC_000006.11:g.31918879_31918882delinsCAGT , CM000668.1:g.31918879_31918882delinsCAGT	GRCh37
NC_000006.10:g.32026858_32026861delinsCAGT	NCBI36
NG_008191.1:g.10159_10162delinsCAGT , LRG_136:g.10159_10162delinsCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-95_2343-92delinsCAGT
ENST00000483004.2:c.1640-42_1640-39delinsCAGT	ENSP00000419887.2:n.1640-42_1640-39delinsCAGT
ENST00000698628.1:c.1625-42_1625-39delinsCAGT	ENSP00000513848.1:n.1625-42_1625-39delinsCAGT
ENST00000698629.1:n.2128-95_2128-92delinsCAGT
ENST00000698630.1:n.2572-42_2572-39delinsCAGT
ENST00000698631.1:n.2573-42_2573-39delinsCAGT
ENST00000698632.1:n.3619_3622delinsCAGT
ENST00000698633.1:n.3509_3512delinsCAGT
ENST00000425368.7:c.1856-42_1856-39delinsCAGT MANE Select	ENSP00000416561.2:n.1856-42_1856-39delinsCAGT
ENST00000425368.6:c.1856-42_1856-39delinsCAGT	ENSP00000416561.2:n.1856-42_1856-39delinsCAGT
ENST00000456570.5:c.3362-42_3362-39delinsCAGT	ENSP00000410815.1:n.3362-42_3362-39delinsCAGT
ENST00000467360.1:n.982-42_982-39delinsCAGT
ENST00000477310.1:c.2909-42_2909-39delinsCAGT	ENSP00000418996.1:n.2909-42_2909-39delinsCAGT
ENST00000482312.1:n.229_232delinsCAGT
ENST00000483004.1:c.478-42_478-39delinsCAGT
NM_001710.5:c.1856-42_1856-39delinsCAGT , LRG_136t1:c.1856-42_1856-39delinsCAGT	NP_001701.2:n.1856-42_1856-39delinsCAGT
NM_001710.6:c.1856-42_1856-39delinsCAGT MANE Select	NP_001701.2:n.1856-42_1856-39delinsCAGT