Canonical Allele Identifier: CA2587871630

Gene: C3

Linked Data

• gnomAD v4: 19-6678982-CCTCACAATACATGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6678989_6679003del , CM000681.2:g.6678989_6679003del	GRCh38
NC_000019.9:g.6679000_6679014del , CM000681.1:g.6679000_6679014del	GRCh37
NC_000019.8:g.6630000_6630014del	NCBI36
NG_009557.1:g.46655_46669del , LRG_27:g.46655_46669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2978+128_2978+142del
ENST00000695653.1:c.2539+128_2539+142del	ENSP00000512084.1:n.2539+128_2539+142del
ENST00000695654.1:c.3655+128_3655+142del	ENSP00000512085.1:n.3655+128_3655+142del
ENST00000695689.1:c.601+128_601+142del	ENSP00000512101.1:n.601+128_601+142del
ENST00000695690.1:n.1695+128_1695+142del
ENST00000695691.1:n.1491+128_1491+142del
ENST00000245907.11:c.4630+128_4630+142del MANE Select	ENSP00000245907.4:n.4630+128_4630+142del
ENST00000245907.10:c.4630+128_4630+142del	ENSP00000245907.4:n.4630+128_4630+142del
ENST00000599668.1:n.250+128_250+142del
ENST00000599899.5:n.1589+128_1589+142del
ENST00000601008.1:c.242-1039_242-1025del	ENSP00000471384.1:n.242-1039_242-1025del
ENST00000602229.1:c.77+128_77+142del
NM_000064.3:c.4630+128_4630+142del	NP_000055.2:n.4630+128_4630+142del
NM_000064.4:c.4630+128_4630+142del MANE Select	NP_000055.2:n.4630+128_4630+142del