Canonical Allele Identifier: CA2711462421

Gene: CFB

Linked Data

• dbSNP Id: rs2151787488

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950944_31950945insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT , CM000668.2:g.31950944_31950945insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT	GRCh38
NC_000006.11:g.31918721_31918722insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT , CM000668.1:g.31918721_31918722insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT	GRCh37
NC_000006.10:g.32026700_32026701insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT	NCBI36
NG_008191.1:g.10001_10002insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT , LRG_136:g.10001_10002insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2342_2342+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT
ENST00000483004.2:c.1639_1639+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT	ENSP00000419887.2:n.1639_1639+1insAGGAAGAGCTGCTCCCTGCACAGGATA...
ENST00000698628.1:c.1625-200_1625-199insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT	ENSP00000513848.1:n.1625-200_1625-199insAGGAAGAGCTGCTCCCTGCAC...
ENST00000698629.1:n.2127_2127+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT
ENST00000698630.1:n.2571_2571+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT
ENST00000698631.1:n.2572_2572+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT
ENST00000698632.1:n.3461_3462insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT
ENST00000698633.1:n.3351_3352insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT
ENST00000425368.7:c.1855_1855+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT MANE Select	ENSP00000416561.2:n.1855_1855+1insAGGAAGAGCTGCTCCCTGCACAGGATA...
ENST00000425368.6:c.1855_1855+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT	ENSP00000416561.2:n.1855_1855+1insAGGAAGAGCTGCTCCCTGCACAGGATA...
ENST00000456570.5:c.3361_3361+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT	ENSP00000410815.1:n.3361_3361+1insAGGAAGAGCTGCTCCCTGCACAGGATA...
ENST00000467360.1:n.981_981+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT
ENST00000477310.1:c.2908_2908+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT	ENSP00000418996.1:n.2908_2908+1insAGGAAGAGCTGCTCCCTGCACAGGATA...
ENST00000482312.1:n.71_72insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT
ENST00000483004.1:c.477_477+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT
NM_001710.5:c.1855_1855+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT , LRG_136t1:c.1855_1855+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT	NP_001701.2:n.1855_1855+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAG...
NM_001710.6:c.1855_1855+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAGCTCT MANE Select	NP_001701.2:n.1855_1855+1insAGGAAGAGCTGCTCCCTGCACAGGATATCAAAG...