Canonical Allele Identifier: CA645561208

Gene: CFB

Linked Data

• COSMIC: COSM5421700

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950609_31950611del , CM000668.2:g.31950609_31950611del	GRCh38
NC_000006.11:g.31918386_31918388del , CM000668.1:g.31918386_31918388del	GRCh37
NC_000006.10:g.32026365_32026367del	NCBI36
NG_008191.1:g.9666_9668del , LRG_136:g.9666_9668del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2007_2009del
ENST00000483004.2:c.1409-10_1409-8del	ENSP00000419887.2:n.1409-10_1409-8del
ENST00000698628.1:c.1624+206_1624+208del	ENSP00000513848.1:n.1624+206_1624+208del
ENST00000698629.1:n.1802-10_1802-8del
ENST00000698630.1:n.2341-10_2341-8del
ENST00000698631.1:n.2342-10_2342-8del
ENST00000698632.1:n.3126_3128del
ENST00000698633.1:n.3016_3018del
ENST00000698636.1:n.1847-10_1847-8del
ENST00000425368.7:c.1625-10_1625-8del MANE Select	ENSP00000416561.2:n.1625-10_1625-8del
ENST00000425368.6:c.1625-10_1625-8del	ENSP00000416561.2:n.1625-10_1625-8del
ENST00000452035.6:n.1830_1832del
ENST00000456570.5:c.3131-10_3131-8del	ENSP00000410815.1:n.3131-10_3131-8del
ENST00000467360.1:n.741_743del
ENST00000477310.1:c.2678-10_2678-8del	ENSP00000418996.1:n.2678-10_2678-8del
ENST00000483004.1:c.247-10_247-8del
NM_001710.5:c.1625-10_1625-8del , LRG_136t1:c.1625-10_1625-8del	NP_001701.2:n.1625-10_1625-8del
NM_001710.6:c.1625-10_1625-8del MANE Select	NP_001701.2:n.1625-10_1625-8del