Canonical Allele Identifier: CA2320561813
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6701498_6701501delinsTGTC , CM000681.2:g.6701498_6701501delinsTGTC GRCh38
NC_000019.9:g.6701509_6701512delinsTGTC , CM000681.1:g.6701509_6701512delinsTGTC GRCh37
NC_000019.8:g.6652509_6652512delinsTGTC NCBI36
NG_009557.1:g.24151_24154delinsGACA , LRG_27:g.24151_24154delinsGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.788+626_788+629delinsGACA
ENST00000695652.1:c.2317+626_2317+629delinsGACA ENSP00000512083.1:n.2317+626_2317+629delinsGACA
ENST00000695653.1:c.349+626_349+629delinsGACA ENSP00000512084.1:n.349+626_349+629delinsGACA
ENST00000695654.1:c.1564+626_1564+629delinsGACA ENSP00000512085.1:n.1564+626_1564+629delinsGACA
ENST00000695655.1:c.1381+626_1381+629delinsGACA ENSP00000512086.1:n.1381+626_1381+629delinsGACA
ENST00000695692.1:n.1804+626_1804+629delinsGACA
ENST00000245907.11:c.2440+626_2440+629delinsGACA MANE Select ENSP00000245907.4:n.2440+626_2440+629delinsGACA
ENST00000245907.10:c.2440+626_2440+629delinsGACA ENSP00000245907.4:n.2440+626_2440+629delinsGACA
ENST00000602053.1:n.488+626_488+629delinsGACA
NM_000064.3:c.2440+626_2440+629delinsGACA NP_000055.2:n.2440+626_2440+629delinsGACA
NM_000064.4:c.2440+626_2440+629delinsGACA MANE Select NP_000055.2:n.2440+626_2440+629delinsGACA