Canonical Allele Identifier: CA2320568299
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713901_6713904delinsGCCC , CM000681.2:g.6713901_6713904delinsGCCC GRCh38
NC_000019.9:g.6713912_6713915delinsGCCC , CM000681.1:g.6713912_6713915delinsGCCC GRCh37
NC_000019.8:g.6664912_6664915delinsGCCC NCBI36
NG_009557.1:g.11748_11751delinsGGGC , LRG_27:g.11748_11751delinsGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.650+88_650+91delinsGGGC ENSP00000512083.1:n.650+88_650+91delinsGGGC
ENST00000245907.11:c.773+88_773+91delinsGGGC MANE Select ENSP00000245907.4:n.773+88_773+91delinsGGGC
ENST00000245907.10:c.773+88_773+91delinsGGGC ENSP00000245907.4:n.773+88_773+91delinsGGGC
ENST00000595577.1:n.277+88_277+91delinsGGGC
NM_000064.3:c.773+88_773+91delinsGGGC NP_000055.2:n.773+88_773+91delinsGGGC
NM_000064.4:c.773+88_773+91delinsGGGC MANE Select NP_000055.2:n.773+88_773+91delinsGGGC