Canonical Allele Identifier: CA1619374988

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946716_31946717delinsAG , CM000668.2:g.31946716_31946717delinsAG	GRCh38
NC_000006.11:g.31914493_31914494delinsAG , CM000668.1:g.31914493_31914494delinsAG	GRCh37
NC_000006.10:g.32022472_32022473delinsAG	NCBI36
NG_008191.1:g.5773_5774delinsAG , LRG_136:g.5773_5774delinsAG
NG_011730.1:g.24228_24229delinsAG , LRG_26:g.24228_24229delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+110_475+111delinsAG
ENST00000483004.2:c.298+110_298+111delinsAG	ENSP00000419887.2:n.298+110_298+111delinsAG
ENST00000497841.6:c.298+110_298+111delinsAG	ENSP00000513847.1:n.298+110_298+111delinsAG
ENST00000698628.1:c.298+110_298+111delinsAG	ENSP00000513848.1:n.298+110_298+111delinsAG
ENST00000698629.1:n.475+110_475+111delinsAG
ENST00000698630.1:n.569_570delinsAG
ENST00000698631.1:n.564_565delinsAG
ENST00000698632.1:n.536_537delinsAG
ENST00000698633.1:n.506_507delinsAG
ENST00000698636.1:n.520+110_520+111delinsAG
ENST00000425368.7:c.298+110_298+111delinsAG MANE Select	ENSP00000416561.2:n.298+110_298+111delinsAG
ENST00000425368.6:c.298+110_298+111delinsAG	ENSP00000416561.2:n.298+110_298+111delinsAG
ENST00000452035.6:n.298+110_298+111delinsAG
ENST00000456570.5:c.1804+110_1804+111delinsAG	ENSP00000410815.1:n.1804+110_1804+111delinsAG
ENST00000460718.5:c.185+110_185+111delinsAG	ENSP00000417793.1:n.185+110_185+111delinsAG
ENST00000472581.1:n.655_656delinsAG
ENST00000475617.5:c.298+110_298+111delinsAG	ENSP00000420090.1:n.298+110_298+111delinsAG
ENST00000477310.1:c.1352-291_1352-290delinsAG	ENSP00000418996.1:n.1352-291_1352-290delinsAG
NM_001710.5:c.298+110_298+111delinsAG , LRG_136t1:c.298+110_298+111delinsAG	NP_001701.2:n.298+110_298+111delinsAG
NM_001710.6:c.298+110_298+111delinsAG MANE Select	NP_001701.2:n.298+110_298+111delinsAG