Canonical Allele Identifier: CA1619378472

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950588_31950590delinsCAA , CM000668.2:g.31950588_31950590delinsCAA	GRCh38
NC_000006.11:g.31918365_31918367delinsCAA , CM000668.1:g.31918365_31918367delinsCAA	GRCh37
NC_000006.10:g.32026344_32026346delinsCAA	NCBI36
NG_008191.1:g.9645_9647delinsCAA , LRG_136:g.9645_9647delinsCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1986_1988delinsCAA
ENST00000483004.2:c.1409-31_1409-29delinsCAA	ENSP00000419887.2:n.1409-31_1409-29delins...
ENST00000698628.1:c.1624+185_1624+187delinsCAA	ENSP00000513848.1:n.1624+185_1624+187deli...
ENST00000698629.1:n.1802-31_1802-29delinsCAA
ENST00000698630.1:n.2341-31_2341-29delinsCAA
ENST00000698631.1:n.2342-31_2342-29delinsCAA
ENST00000698632.1:n.3105_3107delinsCAA
ENST00000698633.1:n.2995_2997delinsCAA
ENST00000698636.1:n.1847-31_1847-29delinsCAA
ENST00000425368.7:c.1625-31_1625-29delinsCAA MANE Select	ENSP00000416561.2:n.1625-31_1625-29delins...
ENST00000425368.6:c.1625-31_1625-29delinsCAA	ENSP00000416561.2:n.1625-31_1625-29delins...
ENST00000452035.6:n.1809_1811delinsCAA
ENST00000456570.5:c.3131-31_3131-29delinsCAA	ENSP00000410815.1:n.3131-31_3131-29delins...
ENST00000467360.1:n.720_722delinsCAA
ENST00000477310.1:c.2678-31_2678-29delinsCAA	ENSP00000418996.1:n.2678-31_2678-29delins...
ENST00000483004.1:c.247-31_247-29delinsCAA
NM_001710.5:c.1625-31_1625-29delinsCAA , LRG_136t1:c.1625-31_1625-29delinsCAA	NP_001701.2:n.1625-31_1625-29delinsCAA
NM_001710.6:c.1625-31_1625-29delinsCAA MANE Select	NP_001701.2:n.1625-31_1625-29delinsCAA