Canonical Allele Identifier: CA2813436464
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685979_6685981del , CM000681.2:g.6685979_6685981del GRCh38
NC_000019.9:g.6685990_6685992del , CM000681.1:g.6685990_6685992del GRCh37
NC_000019.8:g.6636990_6636992del NCBI36
NG_009557.1:g.39673_39675del , LRG_27:g.39673_39675del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2158+145_2158+147del
ENST00000695653.1:c.1719+145_1719+147del ENSP00000512084.1:n.1719+145_1719+147del
ENST00000695654.1:c.2835+145_2835+147del ENSP00000512085.1:n.2835+145_2835+147del
ENST00000245907.11:c.3810+145_3810+147del MANE Select ENSP00000245907.4:n.3810+145_3810+147del
ENST00000245907.10:c.3810+145_3810+147del ENSP00000245907.4:n.3810+145_3810+147del
ENST00000596238.1:n.253+145_253+147del
ENST00000601008.1:c.241+767_241+769del ENSP00000471384.1:n.241+767_241+769del
NM_000064.3:c.3810+145_3810+147del NP_000055.2:n.3810+145_3810+147del
NM_000064.4:c.3810+145_3810+147del MANE Select NP_000055.2:n.3810+145_3810+147del