Canonical Allele Identifier: CA2770519649
Gene: CFB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31946761_31946762insCCAAACACACCCAACACA , CM000668.2:g.31946761_31946762insCCAAACACACCCAACACA GRCh38
NC_000006.11:g.31914538_31914539insCCAAACACACCCAACACA , CM000668.1:g.31914538_31914539insCCAAACACACCCAACACA GRCh37
NC_000006.10:g.32022517_32022518insCCAAACACACCCAACACA NCBI36
NG_008191.1:g.5818_5819insCCAAACACACCCAACACA , LRG_136:g.5818_5819insCCAAACACACCCAACACA
NG_011730.1:g.24273_24274insCCAAACACACCCAACACA , LRG_26:g.24273_24274insCCAAACACACCCAACACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452035.7:n.475+155_475+156insCCAAACACACCCAACACA
ENST00000483004.2:c.298+155_298+156insCCAAACACACCCAACACA ENSP00000419887.2:n.298+155_298+156insCCAAACACACCCAACACA
ENST00000497841.6:c.298+155_298+156insCCAAACACACCCAACACA ENSP00000513847.1:n.298+155_298+156insCCAAACACACCCAACACA
ENST00000698628.1:c.298+155_298+156insCCAAACACACCCAACACA ENSP00000513848.1:n.298+155_298+156insCCAAACACACCCAACACA
ENST00000698629.1:n.475+155_475+156insCCAAACACACCCAACACA
ENST00000698630.1:n.614_615insCCAAACACACCCAACACA
ENST00000698631.1:n.609_610insCCAAACACACCCAACACA
ENST00000698632.1:n.581_582insCCAAACACACCCAACACA
ENST00000698633.1:n.551_552insCCAAACACACCCAACACA
ENST00000698636.1:n.520+155_520+156insCCAAACACACCCAACACA
ENST00000425368.7:c.298+155_298+156insCCAAACACACCCAACACA MANE Select ENSP00000416561.2:n.298+155_298+156insCCAAACACACCCAACACA
ENST00000425368.6:c.298+155_298+156insCCAAACACACCCAACACA ENSP00000416561.2:n.298+155_298+156insCCAAACACACCCAACACA
ENST00000452035.6:n.298+155_298+156insCCAAACACACCCAACACA
ENST00000456570.5:c.1804+155_1804+156insCCAAACACACCCAACACA ENSP00000410815.1:n.1804+155_1804+156insCCAAACACACCCAACACA
ENST00000460718.5:c.185+155_185+156insCCAAACACACCCAACACA ENSP00000417793.1:n.185+155_185+156insCCAAACACACCCAACACA
ENST00000472581.1:n.700_701insCCAAACACACCCAACACA
ENST00000475617.5:c.298+155_298+156insCCAAACACACCCAACACA ENSP00000420090.1:n.298+155_298+156insCCAAACACACCCAACACA
ENST00000477310.1:c.1352-246_1352-245insCCAAACACACCCAACACA ENSP00000418996.1:n.1352-246_1352-245insCCAAACACACCCAACACA
NM_001710.5:c.298+155_298+156insCCAAACACACCCAACACA , LRG_136t1:c.298+155_298+156insCCAAACACACCCAACACA NP_001701.2:n.298+155_298+156insCCAAACACACCCAACACA
NM_001710.6:c.298+155_298+156insCCAAACACACCCAACACA MANE Select NP_001701.2:n.298+155_298+156insCCAAACACACCCAACACA