Canonical Allele Identifier: CA2576591827
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681939del , CM000681.2:g.6681939del GRCh38
NC_000019.9:g.6681950del , CM000681.1:g.6681950del GRCh37
NC_000019.8:g.6632950del NCBI36
NG_009557.1:g.43713del , LRG_27:g.43713del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2698+2del
ENST00000695653.1:c.2259+2del ENSP00000512084.1:n.2259+2del
ENST00000695654.1:c.3375+2del ENSP00000512085.1:n.3375+2del
ENST00000695689.1:c.321+2del ENSP00000512101.1:n.321+2del
ENST00000695690.1:n.543del
ENST00000695691.1:n.543del
ENST00000245907.11:c.4350+2del MANE Select ENSP00000245907.4:n.4350+2del
ENST00000245907.10:c.4350+2del ENSP00000245907.4:n.4350+2del
ENST00000596548.1:c.471+2del ENSP00000469744.1:n.471+2del
ENST00000599899.5:n.1309+2del
ENST00000601008.1:c.242-3981del ENSP00000471384.1:n.242-3981del
NM_000064.3:c.4350+2del NP_000055.2:n.4350+2del
NM_000064.4:c.4350+2del MANE Select NP_000055.2:n.4350+2del