Canonical Allele Identifier: CA993073744

Gene: C3

Linked Data

• gnomAD v3: 19-6710045-GAGAGACAGGGAGAGAGACGGAGAGACAGGGAGAGAGGGAGAGAGACGGAGAGACAGAGAGAGGGAGAGTGAGGGGGGAGAGAGGGAAAGGGAAAGAGGGAGAGAAAGGGAGAGGGAGAGAGAGGGAAAGAGAGAGGGAGAGAGAGAGGGAAAGAGAGAAGGAGAGAAAGAGGGAGAGAGAAGGAGAGAGAGGGAGAGAGAGAAAGGGAGAGAGAGAGGGAGAGGGAAAGAGAGAGGGAGAGAAAGAGAGGGGAGAGAGAGGGAAAGGGAA-G
• gnomAD v4: 19-6710045-GAGAGACAGGGAGAGAGACGGAGAGACAGGGAGAGAGGGAGAGAGACGGAGAGACAGAGAGAGGGAGAGTGAGGGGGGAGAGAGGGAAAGGGAAAGAGGGAGAGAAAGGGAGAGGGAGAGAGAGGGAAAGAGAGAGGGAGAGAGAGAGGGAAAGAGAGAAGGAGAGAAAGAGGGAGAGAGAAGGAGAGAGAGGGAGAGAGAGAAAGGGAGAGAGAGAGGGAGAGGGAAAGAGAGAGGGAGAGAAAGAGAGGGGAGAGAGAGGGAAAGGGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710063_6710332del , CM000681.2:g.6710063_6710332del	GRCh38
NC_000019.9:g.6710074_6710343del , CM000681.1:g.6710074_6710343del	GRCh37
NC_000019.8:g.6661074_6661343del	NCBI36
NG_009557.1:g.15337_15606del , LRG_27:g.15337_15606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1563+324_1564-204del	ENSP00000512083.1:n.1563+324_1564-204del
ENST00000695654.1:c.810+324_811-204del	ENSP00000512085.1:n.810+324_811-204del
ENST00000695655.1:c.591+324_592-168del	ENSP00000512086.1:n.591+324_592-168del
ENST00000695692.1:n.1050+324_1051-204del
ENST00000245907.11:c.1686+324_1687-204del MANE Select	ENSP00000245907.4:n.1686+324_1687-204del
ENST00000245907.10:c.1686+324_1687-204del	ENSP00000245907.4:n.1686+324_1687-204del
ENST00000600763.1:n.319+324_320-204del
NM_000064.3:c.1686+324_1687-204del	NP_000055.2:n.1686+324_1687-204del
NM_000064.4:c.1686+324_1687-204del MANE Select	NP_000055.2:n.1686+324_1687-204del