Canonical Allele Identifier: CA2582310850

Gene: C3

Linked Data

• gnomAD v3: 19-6710002-GGAGGGAGAGAGAGGGAGAGAGGGCGGGAGAGAGAGAGAAAGGGAGAGACAGGGAGAGAGACGGAGAGACAGGGAGAGAGGGAGAGAGACGGAGAGACAGAGAGAGGGAGAGTGAGGGGGGAGAGAGGGAAAGGGAAAGAGGGAGAGAAAGGGAGAGGGAGAGAGAGGGAAAGAGA-G
• gnomAD v4: 19-6710002-GGAGGGAGAGAGAGGGAGAGAGGGCGGGAGAGAGAGAGAAAGGGAGAGACAGGGAGAGAGACGGAGAGACAGGGAGAGAGGGAGAGAGACGGAGAGACAGAGAGAGGGAGAGTGAGGGGGGAGAGAGGGAAAGGGAAAGAGGGAGAGAAAGGGAGAGGGAGAGAGAGGGAAAGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710016_6710190del , CM000681.2:g.6710016_6710190del	GRCh38
NC_000019.9:g.6710027_6710201del , CM000681.1:g.6710027_6710201del	GRCh37
NC_000019.8:g.6661027_6661201del	NCBI36
NG_009557.1:g.15475_15649del , LRG_27:g.15475_15649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-335_1564-161del	ENSP00000512083.1:n.1564-335_1564-161del
ENST00000695654.1:c.811-335_811-161del	ENSP00000512085.1:n.811-335_811-161del
ENST00000695655.1:c.592-299_592-125del	ENSP00000512086.1:n.592-299_592-125del
ENST00000695692.1:n.1051-335_1051-161del
ENST00000245907.11:c.1687-335_1687-161del MANE Select	ENSP00000245907.4:n.1687-335_1687-161del
ENST00000245907.10:c.1687-335_1687-161del	ENSP00000245907.4:n.1687-335_1687-161del
ENST00000600763.1:n.320-335_320-161del
NM_000064.3:c.1687-335_1687-161del	NP_000055.2:n.1687-335_1687-161del
NM_000064.4:c.1687-335_1687-161del MANE Select	NP_000055.2:n.1687-335_1687-161del