Canonical Allele Identifier: CA1619378378

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950490_31950492delinsCCT , CM000668.2:g.31950490_31950492delinsCCT	GRCh38
NC_000006.11:g.31918267_31918269delinsCCT , CM000668.1:g.31918267_31918269delinsCCT	GRCh37
NC_000006.10:g.32026246_32026248delinsCCT	NCBI36
NG_008191.1:g.9547_9549delinsCCT , LRG_136:g.9547_9549delinsCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1888_1890delinsCCT
ENST00000483004.2:c.1409-129_1409-127delinsCCT	ENSP00000419887.2:n.1409-129_1409-127deli...
ENST00000698628.1:c.1624+87_1624+89delinsCCT	ENSP00000513848.1:n.1624+87_1624+89delins...
ENST00000698629.1:n.1801+87_1801+89delinsCCT
ENST00000698630.1:n.2340+87_2340+89delinsCCT
ENST00000698631.1:n.2341+87_2341+89delinsCCT
ENST00000698632.1:n.3007_3009delinsCCT
ENST00000698633.1:n.2897_2899delinsCCT
ENST00000698636.1:n.1846+87_1846+89delinsCCT
ENST00000425368.7:c.1624+87_1624+89delinsCCT MANE Select	ENSP00000416561.2:n.1624+87_1624+89delins...
ENST00000425368.6:c.1624+87_1624+89delinsCCT	ENSP00000416561.2:n.1624+87_1624+89delins...
ENST00000452035.6:n.1711_1713delinsCCT
ENST00000456570.5:c.3130+87_3130+89delinsCCT	ENSP00000410815.1:n.3130+87_3130+89delins...
ENST00000467360.1:n.622_624delinsCCT
ENST00000477310.1:c.2677+87_2677+89delinsCCT	ENSP00000418996.1:n.2677+87_2677+89delins...
ENST00000483004.1:c.247-129_247-127delinsCCT
NM_001710.5:c.1624+87_1624+89delinsCCT , LRG_136t1:c.1624+87_1624+89delinsCCT	NP_001701.2:n.1624+87_1624+89delinsCCT
NM_001710.6:c.1624+87_1624+89delinsCCT MANE Select	NP_001701.2:n.1624+87_1624+89delinsCCT