Canonical Allele Identifier: CA2587878552

Gene: C3

Linked Data

• gnomAD v4: 19-6713818-GCCCCACCCCCAGCCCCCCACCTTCCCCACCCCCAGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713826_6713862del , CM000681.2:g.6713826_6713862del	GRCh38
NC_000019.9:g.6713837_6713873del , CM000681.1:g.6713837_6713873del	GRCh37
NC_000019.8:g.6664837_6664873del	NCBI36
NG_009557.1:g.11797_11833del , LRG_27:g.11797_11833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.650+137_650+173del	ENSP00000512083.1:n.650+137_650+173del
ENST00000245907.11:c.773+137_773+173del MANE Select	ENSP00000245907.4:n.773+137_773+173del
ENST00000245907.10:c.773+137_773+173del	ENSP00000245907.4:n.773+137_773+173del
ENST00000595577.1:n.277+137_277+173del
NM_000064.3:c.773+137_773+173del	NP_000055.2:n.773+137_773+173del
NM_000064.4:c.773+137_773+173del MANE Select	NP_000055.2:n.773+137_773+173del