Canonical Allele Identifier: CA1619378835

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951017_31951018delinsAG , CM000668.2:g.31951017_31951018delinsAG	GRCh38
NC_000006.11:g.31918794_31918795delinsAG , CM000668.1:g.31918794_31918795delinsAG	GRCh37
NC_000006.10:g.32026773_32026774delinsAG	NCBI36
NG_008191.1:g.10074_10075delinsAG , LRG_136:g.10074_10075delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342+73_2342+74delinsAG
ENST00000483004.2:c.1639+73_1639+74delinsAG	ENSP00000419887.2:n.1639+73_1639+74delinsAG
ENST00000698628.1:c.1625-127_1625-126delinsAG	ENSP00000513848.1:n.1625-127_1625-126delinsAG
ENST00000698629.1:n.2127+73_2127+74delinsAG
ENST00000698630.1:n.2571+73_2571+74delinsAG
ENST00000698631.1:n.2572+73_2572+74delinsAG
ENST00000698632.1:n.3534_3535delinsAG
ENST00000698633.1:n.3424_3425delinsAG
ENST00000425368.7:c.1855+73_1855+74delinsAG MANE Select	ENSP00000416561.2:n.1855+73_1855+74delinsAG
ENST00000425368.6:c.1855+73_1855+74delinsAG	ENSP00000416561.2:n.1855+73_1855+74delinsAG
ENST00000456570.5:c.3361+73_3361+74delinsAG	ENSP00000410815.1:n.3361+73_3361+74delinsAG
ENST00000467360.1:n.981+73_981+74delinsAG
ENST00000477310.1:c.2908+73_2908+74delinsAG	ENSP00000418996.1:n.2908+73_2908+74delinsAG
ENST00000482312.1:n.144_145delinsAG
ENST00000483004.1:c.477+73_477+74delinsAG
NM_001710.5:c.1855+73_1855+74delinsAG , LRG_136t1:c.1855+73_1855+74delinsAG	NP_001701.2:n.1855+73_1855+74delinsAG
NM_001710.6:c.1855+73_1855+74delinsAG MANE Select	NP_001701.2:n.1855+73_1855+74delinsAG