Canonical Allele Identifier: CA1619374894

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946619_31946621delinsTGA , CM000668.2:g.31946619_31946621delinsTGA	GRCh38
NC_000006.11:g.31914396_31914398delinsTGA , CM000668.1:g.31914396_31914398delinsTGA	GRCh37
NC_000006.10:g.32022375_32022377delinsTGA	NCBI36
NG_008191.1:g.5676_5678delinsTGA , LRG_136:g.5676_5678delinsTGA
NG_011730.1:g.24131_24133delinsTGA , LRG_26:g.24131_24133delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+13_475+15delinsTGA
ENST00000483004.2:c.298+13_298+15delinsTGA	ENSP00000419887.2:n.298+13_298+15delinsTGA
ENST00000497841.6:c.298+13_298+15delinsTGA	ENSP00000513847.1:n.298+13_298+15delinsTGA
ENST00000698628.1:c.298+13_298+15delinsTGA	ENSP00000513848.1:n.298+13_298+15delinsTGA
ENST00000698629.1:n.475+13_475+15delinsTGA
ENST00000698630.1:n.472_474delinsTGA
ENST00000698631.1:n.467_469delinsTGA
ENST00000698632.1:n.439_441delinsTGA
ENST00000698633.1:n.409_411delinsTGA
ENST00000698636.1:n.520+13_520+15delinsTGA
ENST00000425368.7:c.298+13_298+15delinsTGA MANE Select	ENSP00000416561.2:n.298+13_298+15delinsTGA
ENST00000425368.6:c.298+13_298+15delinsTGA	ENSP00000416561.2:n.298+13_298+15delinsTGA
ENST00000452035.6:n.298+13_298+15delinsTGA
ENST00000456570.5:c.1804+13_1804+15delinsTGA	ENSP00000410815.1:n.1804+13_1804+15delinsTGA
ENST00000460718.5:c.185+13_185+15delinsTGA	ENSP00000417793.1:n.185+13_185+15delinsTGA
ENST00000472581.1:n.558_560delinsTGA
ENST00000475617.5:c.298+13_298+15delinsTGA	ENSP00000420090.1:n.298+13_298+15delinsTGA
ENST00000477310.1:c.1352-388_1352-386delinsTGA	ENSP00000418996.1:n.1352-388_1352-386delinsTGA
NM_001710.5:c.298+13_298+15delinsTGA , LRG_136t1:c.298+13_298+15delinsTGA	NP_001701.2:n.298+13_298+15delinsTGA
NM_001710.6:c.298+13_298+15delinsTGA MANE Select	NP_001701.2:n.298+13_298+15delinsTGA