Canonical Allele Identifier: CA1619378675

Gene: CFB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950794_31950804delinsAGGAAAGGCTG , CM000668.2:g.31950794_31950804delinsAGGAAAGGCTG	GRCh38
NC_000006.11:g.31918571_31918581delinsAGGAAAGGCTG , CM000668.1:g.31918571_31918581delinsAGGAAAGGCTG	GRCh37
NC_000006.10:g.32026550_32026560delinsAGGAAAGGCTG	NCBI36
NG_008191.1:g.9851_9861delinsAGGAAAGGCTG , LRG_136:g.9851_9861delinsAGGAAAGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2192_2202delinsAGGAAAGGCTG
ENST00000483004.2:c.1562+22_1562+32delinsAGGAAAGGCTG	ENSP00000419887.2:n.1562+22_1562+32delinsAGGAAAGGCTG
ENST00000698628.1:c.1625-350_1625-340delinsAGGAAAGGCTG	ENSP00000513848.1:n.1625-350_1625-340delinsAGGAAAGGCTG
ENST00000698629.1:n.1977_1987delinsAGGAAAGGCTG
ENST00000698630.1:n.2494+22_2494+32delinsAGGAAAGGCTG
ENST00000698631.1:n.2495+22_2495+32delinsAGGAAAGGCTG
ENST00000698632.1:n.3311_3321delinsAGGAAAGGCTG
ENST00000698633.1:n.3201_3211delinsAGGAAAGGCTG
ENST00000425368.7:c.1778+22_1778+32delinsAGGAAAGGCTG MANE Select	ENSP00000416561.2:n.1778+22_1778+32delinsAGGAAAGGCTG
ENST00000425368.6:c.1778+22_1778+32delinsAGGAAAGGCTG	ENSP00000416561.2:n.1778+22_1778+32delinsAGGAAAGGCTG
ENST00000456570.5:c.3284+22_3284+32delinsAGGAAAGGCTG	ENSP00000410815.1:n.3284+22_3284+32delinsAGGAAAGGCTG
ENST00000467360.1:n.904+22_904+32delinsAGGAAAGGCTG
ENST00000477310.1:c.2831+22_2831+32delinsAGGAAAGGCTG	ENSP00000418996.1:n.2831+22_2831+32delinsAGGAAAGGCTG
ENST00000483004.1:c.400+22_400+32delinsAGGAAAGGCTG
NM_001710.5:c.1778+22_1778+32delinsAGGAAAGGCTG , LRG_136t1:c.1778+22_1778+32delinsAGGAAAGGCTG	NP_001701.2:n.1778+22_1778+32delinsAGGAAAGGCTG
NM_001710.6:c.1778+22_1778+32delinsAGGAAAGGCTG MANE Select	NP_001701.2:n.1778+22_1778+32delinsAGGAAAGGCTG