Canonical Allele Identifier: CA993073523

Gene: C3

Linked Data

• gnomAD v3: 19-6710007-GAGAGAGAGGGAGAGAGGGCGGGAGAGAGAGAGAAAGGGAGAGACAGGGAGAGAGACGGAGAGACAGGGAGAGAGGGAGAGAGACGGAGAGAC-G
• gnomAD v4: 19-6710007-GAGAGAGAGGGAGAGAGGGCGGGAGAGAGAGAGAAAGGGAGAGACAGGGAGAGAGACGGAGAGACAGGGAGAGAGGGAGAGAGACGGAGAGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710022_6710113del , CM000681.2:g.6710022_6710113del	GRCh38
NC_000019.9:g.6710033_6710124del , CM000681.1:g.6710033_6710124del	GRCh37
NC_000019.8:g.6661033_6661124del	NCBI36
NG_009557.1:g.15553_15644del , LRG_27:g.15553_15644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-257_1564-166del	ENSP00000512083.1:n.1564-257_1564-166del
ENST00000695654.1:c.811-257_811-166del	ENSP00000512085.1:n.811-257_811-166del
ENST00000695655.1:c.592-221_592-130del	ENSP00000512086.1:n.592-221_592-130del
ENST00000695692.1:n.1051-257_1051-166del
ENST00000245907.11:c.1687-257_1687-166del MANE Select	ENSP00000245907.4:n.1687-257_1687-166del
ENST00000245907.10:c.1687-257_1687-166del	ENSP00000245907.4:n.1687-257_1687-166del
ENST00000600763.1:n.320-257_320-166del
NM_000064.3:c.1687-257_1687-166del	NP_000055.2:n.1687-257_1687-166del
NM_000064.4:c.1687-257_1687-166del MANE Select	NP_000055.2:n.1687-257_1687-166del