Canonical Allele Identifier: CA2499904623
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714503del , CM000681.2:g.6714503del GRCh38
NC_000019.9:g.6714514del , CM000681.1:g.6714514del GRCh37
NC_000019.8:g.6665514del NCBI36
NG_009557.1:g.11150del , LRG_27:g.11150del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.382-56del ENSP00000512083.1:n.382-56del
ENST00000245907.11:c.505-56del MANE Select ENSP00000245907.4:n.505-56del
ENST00000245907.10:c.505-56del ENSP00000245907.4:n.505-56del
NM_000064.3:c.505-56del NP_000055.2:n.505-56del
NM_000064.4:c.505-56del MANE Select NP_000055.2:n.505-56del