Canonical Allele Identifier: CA1619374709

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946401_31946403delinsCCG , CM000668.2:g.31946401_31946403delinsCCG	GRCh38
NC_000006.11:g.31914178_31914180delinsCCG , CM000668.1:g.31914178_31914180delinsCCG	GRCh37
NC_000006.10:g.32022157_32022159delinsCCG	NCBI36
NG_008191.1:g.5458_5460delinsCCG , LRG_136:g.5458_5460delinsCCG
NG_011730.1:g.23913_23915delinsCCG , LRG_26:g.23913_23915delinsCCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.270_272delinsCCG
ENST00000483004.2:c.93_95delinsCCG	ENSP00000419887.2:p.Ala31=
ENST00000497841.6:c.93_95delinsCCG	ENSP00000513847.1:p.Ala31=
ENST00000698628.1:c.93_95delinsCCG	ENSP00000513848.1:p.Ala31=
ENST00000698629.1:n.270_272delinsCCG
ENST00000698630.1:n.254_256delinsCCG
ENST00000698631.1:n.249_251delinsCCG
ENST00000698632.1:n.221_223delinsCCG
ENST00000698633.1:n.191_193delinsCCG
ENST00000698636.1:n.315_317delinsCCG
ENST00000425368.7:c.93_95delinsCCG MANE Select	ENSP00000416561.2:p.Ala31=
ENST00000425368.6:c.93_95delinsCCG	ENSP00000416561.2:p.Ala31=
ENST00000452035.6:n.93_95delinsCCG
ENST00000456570.5:c.1599_1601delinsCCG	ENSP00000410815.1:p.Ala533=
ENST00000460718.5:c.65-85_65-83delinsCCG	ENSP00000417793.1:n.65-85_65-83delinsCCG
ENST00000472581.1:n.340_342delinsCCG
ENST00000475617.5:c.93_95delinsCCG	ENSP00000420090.1:p.Ala31=
ENST00000477310.1:c.1352-606_1352-604delinsCCG	ENSP00000418996.1:n.1352-606_1352-604deli...
NM_001710.5:c.93_95delinsCCG , LRG_136t1:c.93_95delinsCCG	NP_001701.2:p.Ala31=
NM_001710.6:c.93_95delinsCCG MANE Select	NP_001701.2:p.Ala31=