Canonical Allele Identifier: CA917713344

Gene: CFB

Linked Data

• dbSNP Id: rs1554284804

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946402_31946403delinsT , CM000668.2:g.31946402_31946403delinsT	GRCh38
NC_000006.11:g.31914179_31914180delinsT , CM000668.1:g.31914179_31914180delinsT	GRCh37
NC_000006.10:g.32022158_32022159delinsT	NCBI36
NG_008191.1:g.5459_5460delinsT , LRG_136:g.5459_5460delinsT
NG_011730.1:g.23914_23915delinsT , LRG_26:g.23914_23915delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.271_272delinsT
ENST00000483004.2:c.94_95delinsT	ENSP00000419887.2:p.Arg32CysfsTer11
ENST00000497841.6:c.94_95delinsT	ENSP00000513847.1:p.Arg32CysfsTer11
ENST00000698628.1:c.94_95delinsT	ENSP00000513848.1:p.Arg32CysfsTer11
ENST00000698629.1:n.271_272delinsT
ENST00000698630.1:n.255_256delinsT
ENST00000698631.1:n.250_251delinsT
ENST00000698632.1:n.222_223delinsT
ENST00000698633.1:n.192_193delinsT
ENST00000698636.1:n.316_317delinsT
ENST00000425368.7:c.94_95delinsT MANE Select	ENSP00000416561.2:p.Arg32CysfsTer11
ENST00000425368.6:c.94_95delinsT	ENSP00000416561.2:p.Arg32CysfsTer11
ENST00000452035.6:n.94_95delinsT
ENST00000456570.5:c.1600_1601delinsT	ENSP00000410815.1:p.Arg534CysfsTer11
ENST00000460718.5:c.65-84_65-83delinsT	ENSP00000417793.1:n.65-84_65-83delinsT
ENST00000472581.1:n.341_342delinsT
ENST00000475617.5:c.94_95delinsT	ENSP00000420090.1:p.Arg32CysfsTer11
ENST00000477310.1:c.1352-605_1352-604delinsT	ENSP00000418996.1:n.1352-605_1352-604deli...
NM_001710.5:c.94_95delinsT , LRG_136t1:c.94_95delinsT	NP_001701.2:p.Arg32CysfsTer11
NM_001710.6:c.94_95delinsT MANE Select	NP_001701.2:p.Arg32CysfsTer11