Canonical Allele Identifier: CA2320559233

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697812_6697825delinsGAACACGGAGTGTC , CM000681.2:g.6697812_6697825delinsGAACACGGAGTGTC	GRCh38
NC_000019.9:g.6697823_6697836delinsGAACACGGAGTGTC , CM000681.1:g.6697823_6697836delinsGAACACGGAGTGTC	GRCh37
NC_000019.8:g.6648823_6648836delinsGAACACGGAGTGTC	NCBI36
NG_009557.1:g.27827_27840delinsGACACTCCGTGTTC , LRG_27:g.27827_27840delinsGACACTCCGTGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.789-31_789-18delinsGACACTCCGTGTTC
ENST00000695652.1:c.2318-31_2318-18delinsGACACTCCGTGTTC	ENSP00000512083.1:n.2318-31_2318-18delinsGACACTCCGTGTTC
ENST00000695653.1:c.350-31_350-18delinsGACACTCCGTGTTC	ENSP00000512084.1:n.350-31_350-18delinsGACACTCCGTGTTC
ENST00000695654.1:c.1565-31_1565-18delinsGACACTCCGTGTTC	ENSP00000512085.1:n.1565-31_1565-18delinsGACACTCCGTGTTC
ENST00000695655.1:c.1382-31_1382-18delinsGACACTCCGTGTTC	ENSP00000512086.1:n.1382-31_1382-18delinsGACACTCCGTGTTC
ENST00000695692.1:n.1805-31_1805-18delinsGACACTCCGTGTTC
ENST00000245907.11:c.2441-31_2441-18delinsGACACTCCGTGTTC MANE Select	ENSP00000245907.4:n.2441-31_2441-18delinsGACACTCCGTGTTC
ENST00000245907.10:c.2441-31_2441-18delinsGACACTCCGTGTTC	ENSP00000245907.4:n.2441-31_2441-18delinsGACACTCCGTGTTC
ENST00000602053.1:n.489-31_489-18delinsGACACTCCGTGTTC
NM_000064.3:c.2441-31_2441-18delinsGACACTCCGTGTTC	NP_000055.2:n.2441-31_2441-18delinsGACACTCCGTGTTC
NM_000064.4:c.2441-31_2441-18delinsGACACTCCGTGTTC MANE Select	NP_000055.2:n.2441-31_2441-18delinsGACACTCCGTGTTC