Canonical Allele Identifier: CA1619378473

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950590_31950592delinsAAG , CM000668.2:g.31950590_31950592delinsAAG	GRCh38
NC_000006.11:g.31918367_31918369delinsAAG , CM000668.1:g.31918367_31918369delinsAAG	GRCh37
NC_000006.10:g.32026346_32026348delinsAAG	NCBI36
NG_008191.1:g.9647_9649delinsAAG , LRG_136:g.9647_9649delinsAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1988_1990delinsAAG
ENST00000483004.2:c.1409-29_1409-27delinsAAG	ENSP00000419887.2:n.1409-29_1409-27delins...
ENST00000698628.1:c.1624+187_1624+189delinsAAG	ENSP00000513848.1:n.1624+187_1624+189deli...
ENST00000698629.1:n.1802-29_1802-27delinsAAG
ENST00000698630.1:n.2341-29_2341-27delinsAAG
ENST00000698631.1:n.2342-29_2342-27delinsAAG
ENST00000698632.1:n.3107_3109delinsAAG
ENST00000698633.1:n.2997_2999delinsAAG
ENST00000698636.1:n.1847-29_1847-27delinsAAG
ENST00000425368.7:c.1625-29_1625-27delinsAAG MANE Select	ENSP00000416561.2:n.1625-29_1625-27delins...
ENST00000425368.6:c.1625-29_1625-27delinsAAG	ENSP00000416561.2:n.1625-29_1625-27delins...
ENST00000452035.6:n.1811_1813delinsAAG
ENST00000456570.5:c.3131-29_3131-27delinsAAG	ENSP00000410815.1:n.3131-29_3131-27delins...
ENST00000467360.1:n.722_724delinsAAG
ENST00000477310.1:c.2678-29_2678-27delinsAAG	ENSP00000418996.1:n.2678-29_2678-27delins...
ENST00000483004.1:c.247-29_247-27delinsAAG
NM_001710.5:c.1625-29_1625-27delinsAAG , LRG_136t1:c.1625-29_1625-27delinsAAG	NP_001701.2:n.1625-29_1625-27delinsAAG
NM_001710.6:c.1625-29_1625-27delinsAAG MANE Select	NP_001701.2:n.1625-29_1625-27delinsAAG