Canonical Allele Identifier: CA1619378795

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950942_31950946delinsAAAGT , CM000668.2:g.31950942_31950946delinsAAAGT	GRCh38
NC_000006.11:g.31918719_31918723delinsAAAGT , CM000668.1:g.31918719_31918723delinsAAAGT	GRCh37
NC_000006.10:g.32026698_32026702delinsAAAGT	NCBI36
NG_008191.1:g.9999_10003delinsAAAGT , LRG_136:g.9999_10003delinsAAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2340_2342+2delinsAAAGT
ENST00000483004.2:c.1637_1639+2delinsAAAGT
ENST00000698628.1:c.1625-202_1625-198delinsAAAGT	ENSP00000513848.1:n.1625-202_1625-198delinsAAAGT
ENST00000698629.1:n.2125_2127+2delinsAAAGT
ENST00000698630.1:n.2569_2571+2delinsAAAGT
ENST00000698631.1:n.2570_2572+2delinsAAAGT
ENST00000698632.1:n.3459_3463delinsAAAGT
ENST00000698633.1:n.3349_3353delinsAAAGT
ENST00000425368.7:c.1853_1855+2delinsAAAGT
ENST00000425368.6:c.1853_1855+2delinsAAAGT
ENST00000456570.5:c.3359_3361+2delinsAAAGT
ENST00000467360.1:n.979_981+2delinsAAAGT
ENST00000477310.1:c.2906_2908+2delinsAAAGT
ENST00000482312.1:n.69_73delinsAAAGT
ENST00000483004.1:c.475_477+2delinsAAAGT
NM_001710.5:c.1853_1855+2delinsAAAGT , LRG_136t1:c.1853_1855+2delinsAAAGT
NM_001710.6:c.1853_1855+2delinsAAAGT