Canonical Allele Identifier: CA1619378306

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950399_31950400delinsCG , CM000668.2:g.31950399_31950400delinsCG	GRCh38
NC_000006.11:g.31918176_31918177delinsCG , CM000668.1:g.31918176_31918177delinsCG	GRCh37
NC_000006.10:g.32026155_32026156delinsCG	NCBI36
NG_008191.1:g.9456_9457delinsCG , LRG_136:g.9456_9457delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1797_1798delinsCG
ENST00000483004.2:c.1409-220_1409-219delinsCG	ENSP00000419887.2:n.1409-220_1409-219delinsCG
ENST00000698628.1:c.1620_1621delinsCG	ENSP00000513848.1:p.Ser540=
ENST00000698629.1:n.1797_1798delinsCG
ENST00000698630.1:n.2336_2337delinsCG
ENST00000698631.1:n.2337_2338delinsCG
ENST00000698632.1:n.2916_2917delinsCG
ENST00000698633.1:n.2806_2807delinsCG
ENST00000698636.1:n.1842_1843delinsCG
ENST00000425368.7:c.1620_1621delinsCG MANE Select	ENSP00000416561.2:p.Ser540=
ENST00000425368.6:c.1620_1621delinsCG	ENSP00000416561.2:p.Ser540=
ENST00000452035.6:n.1620_1621delinsCG
ENST00000456570.5:c.3126_3127delinsCG	ENSP00000410815.1:p.Ser1042=
ENST00000467360.1:n.531_532delinsCG
ENST00000477310.1:c.2673_2674delinsCG	ENSP00000418996.1:p.Ser891=
ENST00000483004.1:c.247-220_247-219delinsCG
NM_001710.5:c.1620_1621delinsCG , LRG_136t1:c.1620_1621delinsCG	NP_001701.2:p.Ser540=
NM_001710.6:c.1620_1621delinsCG MANE Select	NP_001701.2:p.Ser540=