Canonical Allele Identifier: CA2320550338

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679264_6679267delinsGCCC , CM000681.2:g.6679264_6679267delinsGCCC	GRCh38
NC_000019.9:g.6679275_6679278delinsGCCC , CM000681.1:g.6679275_6679278delinsGCCC	GRCh37
NC_000019.8:g.6630275_6630278delinsGCCC	NCBI36
NG_009557.1:g.46385_46388delinsGGGC , LRG_27:g.46385_46388delinsGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2895-59_2895-56delinsGGGC
ENST00000695653.1:c.2456-59_2456-56delinsGGGC	ENSP00000512084.1:n.2456-59_2456-56delinsGGGC
ENST00000695654.1:c.3572-59_3572-56delinsGGGC	ENSP00000512085.1:n.3572-59_3572-56delinsGGGC
ENST00000695689.1:c.518-59_518-56delinsGGGC	ENSP00000512101.1:n.518-59_518-56delinsGGGC
ENST00000695690.1:n.1612-59_1612-56delinsGGGC
ENST00000695691.1:n.1408-59_1408-56delinsGGGC
ENST00000245907.11:c.4547-59_4547-56delinsGGGC MANE Select	ENSP00000245907.4:n.4547-59_4547-56delinsGGGC
ENST00000245907.10:c.4547-59_4547-56delinsGGGC	ENSP00000245907.4:n.4547-59_4547-56delinsGGGC
ENST00000599668.1:n.167-59_167-56delinsGGGC
ENST00000599899.5:n.1506-59_1506-56delinsGGGC
ENST00000601008.1:c.242-1309_242-1306delinsGGGC	ENSP00000471384.1:n.242-1309_242-1306delinsGGGC
NM_000064.3:c.4547-59_4547-56delinsGGGC	NP_000055.2:n.4547-59_4547-56delinsGGGC
NM_000064.4:c.4547-59_4547-56delinsGGGC MANE Select	NP_000055.2:n.4547-59_4547-56delinsGGGC