Canonical Allele Identifier: CA1619378865

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951070_31951073delinsTCTA , CM000668.2:g.31951070_31951073delinsTCTA	GRCh38
NC_000006.11:g.31918847_31918850delinsTCTA , CM000668.1:g.31918847_31918850delinsTCTA	GRCh37
NC_000006.10:g.32026826_32026829delinsTCTA	NCBI36
NG_008191.1:g.10127_10130delinsTCTA , LRG_136:g.10127_10130delinsTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2343-127_2343-124delinsTCTA
ENST00000483004.2:c.1640-74_1640-71delinsTCTA	ENSP00000419887.2:n.1640-74_1640-71delinsTCTA
ENST00000698628.1:c.1625-74_1625-71delinsTCTA	ENSP00000513848.1:n.1625-74_1625-71delinsTCTA
ENST00000698629.1:n.2128-127_2128-124delinsTCTA
ENST00000698630.1:n.2572-74_2572-71delinsTCTA
ENST00000698631.1:n.2573-74_2573-71delinsTCTA
ENST00000698632.1:n.3587_3590delinsTCTA
ENST00000698633.1:n.3477_3480delinsTCTA
ENST00000425368.7:c.1856-74_1856-71delinsTCTA MANE Select	ENSP00000416561.2:n.1856-74_1856-71delinsTCTA
ENST00000425368.6:c.1856-74_1856-71delinsTCTA	ENSP00000416561.2:n.1856-74_1856-71delinsTCTA
ENST00000456570.5:c.3362-74_3362-71delinsTCTA	ENSP00000410815.1:n.3362-74_3362-71delinsTCTA
ENST00000467360.1:n.982-74_982-71delinsTCTA
ENST00000477310.1:c.2909-74_2909-71delinsTCTA	ENSP00000418996.1:n.2909-74_2909-71delinsTCTA
ENST00000482312.1:n.197_200delinsTCTA
ENST00000483004.1:c.478-74_478-71delinsTCTA
NM_001710.5:c.1856-74_1856-71delinsTCTA , LRG_136t1:c.1856-74_1856-71delinsTCTA	NP_001701.2:n.1856-74_1856-71delinsTCTA
NM_001710.6:c.1856-74_1856-71delinsTCTA MANE Select	NP_001701.2:n.1856-74_1856-71delinsTCTA