Canonical Allele Identifier: CA2770524646

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950945_31950946del , CM000668.2:g.31950945_31950946del	GRCh38
NC_000006.11:g.31918722_31918723del , CM000668.1:g.31918722_31918723del	GRCh37
NC_000006.10:g.32026701_32026702del	NCBI36
NG_008191.1:g.10002_10003del , LRG_136:g.10002_10003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+1_2342+2del
ENST00000483004.2:c.1639+1_1639+2del	ENSP00000419887.2:n.1639+1_1639+2del
ENST00000698628.1:c.1625-199_1625-198del	ENSP00000513848.1:n.1625-199_1625-198del
ENST00000698629.1:n.2127+1_2127+2del
ENST00000698630.1:n.2571+1_2571+2del
ENST00000698631.1:n.2572+1_2572+2del
ENST00000698632.1:n.3462_3463del
ENST00000698633.1:n.3352_3353del
ENST00000425368.7:c.1855+1_1855+2del MANE Select	ENSP00000416561.2:n.1855+1_1855+2del
ENST00000425368.6:c.1855+1_1855+2del	ENSP00000416561.2:n.1855+1_1855+2del
ENST00000456570.5:c.3361+1_3361+2del	ENSP00000410815.1:n.3361+1_3361+2del
ENST00000467360.1:n.981+1_981+2del
ENST00000477310.1:c.2908+1_2908+2del	ENSP00000418996.1:n.2908+1_2908+2del
ENST00000482312.1:n.72_73del
ENST00000483004.1:c.477+1_477+2del
NM_001710.5:c.1855+1_1855+2del , LRG_136t1:c.1855+1_1855+2del	NP_001701.2:n.1855+1_1855+2del
NM_001710.6:c.1855+1_1855+2del MANE Select	NP_001701.2:n.1855+1_1855+2del