Canonical Allele Identifier: CA1619374705

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946399_31946402delinsGCCC , CM000668.2:g.31946399_31946402delinsGCCC	GRCh38
NC_000006.11:g.31914176_31914179delinsGCCC , CM000668.1:g.31914176_31914179delinsGCCC	GRCh37
NC_000006.10:g.32022155_32022158delinsGCCC	NCBI36
NG_008191.1:g.5456_5459delinsGCCC , LRG_136:g.5456_5459delinsGCCC
NG_011730.1:g.23911_23914delinsGCCC , LRG_26:g.23911_23914delinsGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.268_271delinsGCCC
ENST00000483004.2:c.91_94delinsGCCC	ENSP00000419887.2:p.Ala31=
ENST00000497841.6:c.91_94delinsGCCC	ENSP00000513847.1:p.Ala31=
ENST00000698628.1:c.91_94delinsGCCC	ENSP00000513848.1:p.Ala31=
ENST00000698629.1:n.268_271delinsGCCC
ENST00000698630.1:n.252_255delinsGCCC
ENST00000698631.1:n.247_250delinsGCCC
ENST00000698632.1:n.219_222delinsGCCC
ENST00000698633.1:n.189_192delinsGCCC
ENST00000698636.1:n.313_316delinsGCCC
ENST00000425368.7:c.91_94delinsGCCC MANE Select	ENSP00000416561.2:p.Ala31=
ENST00000425368.6:c.91_94delinsGCCC	ENSP00000416561.2:p.Ala31=
ENST00000452035.6:n.91_94delinsGCCC
ENST00000456570.5:c.1597_1600delinsGCCC	ENSP00000410815.1:p.Ala533=
ENST00000460718.5:c.65-87_65-84delinsGCCC	ENSP00000417793.1:n.65-87_65-84delinsGCCC
ENST00000472581.1:n.338_341delinsGCCC
ENST00000475617.5:c.91_94delinsGCCC	ENSP00000420090.1:p.Ala31=
ENST00000477310.1:c.1352-608_1352-605delinsGCCC	ENSP00000418996.1:n.1352-608_1352-605delinsGCCC
NM_001710.5:c.91_94delinsGCCC , LRG_136t1:c.91_94delinsGCCC	NP_001701.2:p.Ala31=
NM_001710.6:c.91_94delinsGCCC MANE Select	NP_001701.2:p.Ala31=