Canonical Allele Identifier: CA1619378539

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950669_31950672delinsTACA , CM000668.2:g.31950669_31950672delinsTACA	GRCh38
NC_000006.11:g.31918446_31918449delinsTACA , CM000668.1:g.31918446_31918449delinsTACA	GRCh37
NC_000006.10:g.32026425_32026428delinsTACA	NCBI36
NG_008191.1:g.9726_9729delinsTACA , LRG_136:g.9726_9729delinsTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2067_2070delinsTACA
ENST00000483004.2:c.1459_1462delinsTACA	ENSP00000419887.2:p.Tyr487=
ENST00000698628.1:c.1624+266_1624+269delinsTACA	ENSP00000513848.1:n.1624+266_1624+269delinsTACA
ENST00000698629.1:n.1852_1855delinsTACA
ENST00000698630.1:n.2391_2394delinsTACA
ENST00000698631.1:n.2392_2395delinsTACA
ENST00000698632.1:n.3186_3189delinsTACA
ENST00000698633.1:n.3076_3079delinsTACA
ENST00000698636.1:n.1897_1900delinsTACA
ENST00000425368.7:c.1675_1678delinsTACA MANE Select	ENSP00000416561.2:p.Tyr559=
ENST00000425368.6:c.1675_1678delinsTACA	ENSP00000416561.2:p.Tyr559=
ENST00000456570.5:c.3181_3184delinsTACA	ENSP00000410815.1:p.Tyr1061=
ENST00000467360.1:n.801_804delinsTACA
ENST00000477310.1:c.2728_2731delinsTACA	ENSP00000418996.1:p.Tyr910=
ENST00000483004.1:c.297_300delinsTACA
NM_001710.5:c.1675_1678delinsTACA , LRG_136t1:c.1675_1678delinsTACA	NP_001701.2:p.Tyr559=
NM_001710.6:c.1675_1678delinsTACA MANE Select	NP_001701.2:p.Tyr559=