Canonical Allele Identifier: CA2320567817
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713193_6713194delinsGT , CM000681.2:g.6713193_6713194delinsGT GRCh38
NC_000019.9:g.6713204_6713205delinsGT , CM000681.1:g.6713204_6713205delinsGT GRCh37
NC_000019.8:g.6664204_6664205delinsGT NCBI36
NG_009557.1:g.12458_12459delinsAC , LRG_27:g.12458_12459delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.875_876delinsAC ENSP00000512083.1:p.His292=
ENST00000695654.1:c.122_123delinsAC ENSP00000512085.1:p.His41=
ENST00000695692.1:n.322_323delinsAC
ENST00000245907.11:c.998_999delinsAC MANE Select ENSP00000245907.4:p.His333=
ENST00000245907.10:c.998_999delinsAC ENSP00000245907.4:p.His333=
ENST00000594270.5:n.122_123delinsAC
ENST00000595577.1:n.502_503delinsAC
ENST00000597442.5:n.248_249delinsAC
NM_000064.3:c.998_999delinsAC NP_000055.2:p.His333=
NM_000064.4:c.998_999delinsAC MANE Select NP_000055.2:p.His333=