Canonical Allele Identifier: CA2587872389

Gene: C3

Linked Data

• gnomAD v4: 19-6682447-CTGCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682448_6682452del , CM000681.2:g.6682448_6682452del	GRCh38
NC_000019.9:g.6682459_6682463del , CM000681.1:g.6682459_6682463del	GRCh37
NC_000019.8:g.6633459_6633463del	NCBI36
NG_009557.1:g.43200_43204del , LRG_27:g.43200_43204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2521-223_2521-219del
ENST00000695653.1:c.2082-223_2082-219del	ENSP00000512084.1:n.2082-223_2082-219del
ENST00000695654.1:c.3198-223_3198-219del	ENSP00000512085.1:n.3198-223_3198-219del
ENST00000695689.1:c.143+155_143+159del	ENSP00000512101.1:n.143+155_143+159del
ENST00000695690.1:n.364-223_364-219del
ENST00000695691.1:n.364-223_364-219del
ENST00000245907.11:c.4173-223_4173-219del MANE Select	ENSP00000245907.4:n.4173-223_4173-219del
ENST00000245907.10:c.4173-223_4173-219del	ENSP00000245907.4:n.4173-223_4173-219del
ENST00000596548.1:c.294-223_294-219del	ENSP00000469744.1:n.294-223_294-219del
ENST00000599899.5:n.909_913del
ENST00000601008.1:c.241+4294_241+4298del	ENSP00000471384.1:n.241+4294_241+4298del
NM_000064.3:c.4173-223_4173-219del	NP_000055.2:n.4173-223_4173-219del
NM_000064.4:c.4173-223_4173-219del MANE Select	NP_000055.2:n.4173-223_4173-219del