Canonical Allele Identifier: CA1619378713

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950827_31950828delinsGA , CM000668.2:g.31950827_31950828delinsGA	GRCh38
NC_000006.11:g.31918604_31918605delinsGA , CM000668.1:g.31918604_31918605delinsGA	GRCh37
NC_000006.10:g.32026583_32026584delinsGA	NCBI36
NG_008191.1:g.9884_9885delinsGA , LRG_136:g.9884_9885delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2225_2226delinsGA
ENST00000483004.2:c.1563-41_1563-40delinsGA	ENSP00000419887.2:n.1563-41_1563-40delinsGA
ENST00000698628.1:c.1625-317_1625-316delinsGA	ENSP00000513848.1:n.1625-317_1625-316delinsGA
ENST00000698629.1:n.2010_2011delinsGA
ENST00000698630.1:n.2495-41_2495-40delinsGA
ENST00000698631.1:n.2496-41_2496-40delinsGA
ENST00000698632.1:n.3344_3345delinsGA
ENST00000698633.1:n.3234_3235delinsGA
ENST00000425368.7:c.1779-41_1779-40delinsGA MANE Select	ENSP00000416561.2:n.1779-41_1779-40delinsGA
ENST00000425368.6:c.1779-41_1779-40delinsGA	ENSP00000416561.2:n.1779-41_1779-40delinsGA
ENST00000456570.5:c.3285-41_3285-40delinsGA	ENSP00000410815.1:n.3285-41_3285-40delinsGA
ENST00000467360.1:n.905-41_905-40delinsGA
ENST00000477310.1:c.2832-41_2832-40delinsGA	ENSP00000418996.1:n.2832-41_2832-40delinsGA
ENST00000483004.1:c.401-41_401-40delinsGA
NM_001710.5:c.1779-41_1779-40delinsGA , LRG_136t1:c.1779-41_1779-40delinsGA	NP_001701.2:n.1779-41_1779-40delinsGA
NM_001710.6:c.1779-41_1779-40delinsGA MANE Select	NP_001701.2:n.1779-41_1779-40delinsGA