Canonical Allele Identifier: CA1619374669

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946325_31946326delinsTC , CM000668.2:g.31946325_31946326delinsTC	GRCh38
NC_000006.11:g.31914102_31914103delinsTC , CM000668.1:g.31914102_31914103delinsTC	GRCh37
NC_000006.10:g.32022081_32022082delinsTC	NCBI36
NG_008191.1:g.5382_5383delinsTC , LRG_136:g.5382_5383delinsTC
NG_011730.1:g.23837_23838delinsTC , LRG_26:g.23837_23838delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.241+40_241+41delinsTC
ENST00000483004.2:c.64+40_64+41delinsTC	ENSP00000419887.2:n.64+40_64+41delinsTC
ENST00000497841.6:c.64+40_64+41delinsTC	ENSP00000513847.1:n.64+40_64+41delinsTC
ENST00000698628.1:c.64+40_64+41delinsTC	ENSP00000513848.1:n.64+40_64+41delinsTC
ENST00000698629.1:n.241+40_241+41delinsTC
ENST00000698630.1:n.225+40_225+41delinsTC
ENST00000698631.1:n.220+40_220+41delinsTC
ENST00000698632.1:n.192+40_192+41delinsTC
ENST00000698633.1:n.162+40_162+41delinsTC
ENST00000698636.1:n.286+40_286+41delinsTC
ENST00000425368.7:c.64+40_64+41delinsTC MANE Select	ENSP00000416561.2:n.64+40_64+41delinsTC
ENST00000425368.6:c.64+40_64+41delinsTC	ENSP00000416561.2:n.64+40_64+41delinsTC
ENST00000452035.6:n.64+40_64+41delinsTC
ENST00000456570.5:c.1571-48_1571-47delinsTC	ENSP00000410815.1:n.1571-48_1571-47delins...
ENST00000460718.5:c.64+40_64+41delinsTC	ENSP00000417793.1:n.64+40_64+41delinsTC
ENST00000472581.1:n.311+40_311+41delinsTC
ENST00000475617.5:c.64+40_64+41delinsTC	ENSP00000420090.1:n.64+40_64+41delinsTC
ENST00000477310.1:c.1352-682_1352-681delinsTC	ENSP00000418996.1:n.1352-682_1352-681deli...
NM_001710.5:c.64+40_64+41delinsTC , LRG_136t1:c.64+40_64+41delinsTC	NP_001701.2:n.64+40_64+41delinsTC
NM_001710.6:c.64+40_64+41delinsTC MANE Select	NP_001701.2:n.64+40_64+41delinsTC