Canonical Allele Identifier: CA2320550390
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679366_6679371delinsGCTTGC , CM000681.2:g.6679366_6679371delinsGCTTGC GRCh38
NC_000019.9:g.6679377_6679382delinsGCTTGC , CM000681.1:g.6679377_6679382delinsGCTTGC GRCh37
NC_000019.8:g.6630377_6630382delinsGCTTGC NCBI36
NG_009557.1:g.46281_46286delinsGCAAGC , LRG_27:g.46281_46286delinsGCAAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2894+36_2894+41delinsGCAAGC
ENST00000695653.1:c.2455+36_2455+41delinsGCAAGC ENSP00000512084.1:n.2455+36_2455+41delinsGCAAGC
ENST00000695654.1:c.3571+36_3571+41delinsGCAAGC ENSP00000512085.1:n.3571+36_3571+41delinsGCAAGC
ENST00000695689.1:c.517+36_517+41delinsGCAAGC ENSP00000512101.1:n.517+36_517+41delinsGCAAGC
ENST00000695690.1:n.1611+36_1611+41delinsGCAAGC
ENST00000695691.1:n.1407+36_1407+41delinsGCAAGC
ENST00000245907.11:c.4546+36_4546+41delinsGCAAGC MANE Select ENSP00000245907.4:n.4546+36_4546+41delinsGCAAGC
ENST00000245907.10:c.4546+36_4546+41delinsGCAAGC ENSP00000245907.4:n.4546+36_4546+41delinsGCAAGC
ENST00000599668.1:n.166+11_166+16delinsGCAAGC
ENST00000599899.5:n.1505+36_1505+41delinsGCAAGC
ENST00000601008.1:c.242-1413_242-1408delinsGCAAGC ENSP00000471384.1:n.242-1413_242-1408delinsGCAAGC
NM_000064.3:c.4546+36_4546+41delinsGCAAGC NP_000055.2:n.4546+36_4546+41delinsGCAAGC
NM_000064.4:c.4546+36_4546+41delinsGCAAGC MANE Select NP_000055.2:n.4546+36_4546+41delinsGCAAGC