Canonical Allele Identifier: CA2578573040

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950760del , CM000668.2:g.31950760del	GRCh38
NC_000006.11:g.31918537del , CM000668.1:g.31918537del	GRCh37
NC_000006.10:g.32026516del	NCBI36
NG_008191.1:g.9817del , LRG_136:g.9817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2158del
ENST00000483004.2:c.1550del	ENSP00000419887.2:p.Gly517AlafsTer19
ENST00000698628.1:c.1624+357del	ENSP00000513848.1:n.1624+357del
ENST00000698629.1:n.1943del
ENST00000698630.1:n.2482del
ENST00000698631.1:n.2483del
ENST00000698632.1:n.3277del
ENST00000698633.1:n.3167del
ENST00000698636.1:n.1988del
ENST00000425368.7:c.1766del MANE Select	ENSP00000416561.2:p.Gly589AlafsTer19
ENST00000425368.6:c.1766del	ENSP00000416561.2:p.Gly589AlafsTer19
ENST00000456570.5:c.3272del	ENSP00000410815.1:p.Gly1091AlafsTer19
ENST00000467360.1:n.892del
ENST00000477310.1:c.2819del	ENSP00000418996.1:p.Gly940AlafsTer19
ENST00000483004.1:c.388del
NM_001710.5:c.1766del , LRG_136t1:c.1766del	NP_001701.2:p.Gly589AlafsTer19
NM_001710.6:c.1766del MANE Select	NP_001701.2:p.Gly589AlafsTer19