Canonical Allele Identifier: CA2320567759
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713040_6713042delinsCCT , CM000681.2:g.6713040_6713042delinsCCT GRCh38
NC_000019.9:g.6713051_6713053delinsCCT , CM000681.1:g.6713051_6713053delinsCCT GRCh37
NC_000019.8:g.6664051_6664053delinsCCT NCBI36
NG_009557.1:g.12610_12612delinsAGG , LRG_27:g.12610_12612delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.880+147_880+149delinsAGG ENSP00000512083.1:n.880+147_880+149delinsAGG
ENST00000695654.1:c.127+147_127+149delinsAGG ENSP00000512085.1:n.127+147_127+149delinsAGG
ENST00000695692.1:n.327+147_327+149delinsAGG
ENST00000245907.11:c.1003+147_1003+149delinsAGG MANE Select ENSP00000245907.4:n.1003+147_1003+149delinsAGG
ENST00000245907.10:c.1003+147_1003+149delinsAGG ENSP00000245907.4:n.1003+147_1003+149delinsAGG
ENST00000594270.5:n.127+147_127+149delinsAGG
ENST00000595577.1:n.507+147_507+149delinsAGG
ENST00000597442.5:n.253+147_253+149delinsAGG
NM_000064.3:c.1003+147_1003+149delinsAGG NP_000055.2:n.1003+147_1003+149delinsAGG
NM_000064.4:c.1003+147_1003+149delinsAGG MANE Select NP_000055.2:n.1003+147_1003+149delinsAGG