Canonical Allele Identifier: CA2320568016
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713619_6713643delinsTCTCACCTGGCCCCACCTCCAGCCC , CM000681.2:g.6713619_6713643delinsTCTCACCTGGCCCCACCTCCAGCCC GRCh38
NC_000019.9:g.6713630_6713654delinsTCTCACCTGGCCCCACCTCCAGCCC , CM000681.1:g.6713630_6713654delinsTCTCACCTGGCCCCACCTCCAGCCC GRCh37
NC_000019.8:g.6664630_6664654delinsTCTCACCTGGCCCCACCTCCAGCCC NCBI36
NG_009557.1:g.12009_12033delinsGGGCTGGAGGTGGGGCCAGGTGAGA , LRG_27:g.12009_12033delinsGGGCTGGAGGTGGGGCCAGGTGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.651-134_651-110delinsGGGCTGGAGGTGGGGCCAGGTGAGA ENSP00000512083.1:n.651-134_651-110delinsGGGCTGGAGGTGGGGCCAGG...
ENST00000245907.11:c.774-134_774-110delinsGGGCTGGAGGTGGGGCCAGGTGAGA MANE Select ENSP00000245907.4:n.774-134_774-110delinsGGGCTGGAGGTGGGGCCAGG...
ENST00000245907.10:c.774-134_774-110delinsGGGCTGGAGGTGGGGCCAGGTGAGA ENSP00000245907.4:n.774-134_774-110delinsGGGCTGGAGGTGGGGCCAGG...
ENST00000595577.1:n.278-134_278-110delinsGGGCTGGAGGTGGGGCCAGGTGAGA
ENST00000597442.5:n.23+123_24-110delinsGGGCTGGAGGTGGGGCCAGGTGAGA
NM_000064.3:c.774-134_774-110delinsGGGCTGGAGGTGGGGCCAGGTGAGA NP_000055.2:n.774-134_774-110delinsGGGCTGGAGGTGGGGCCAGGTGAGA
NM_000064.4:c.774-134_774-110delinsGGGCTGGAGGTGGGGCCAGGTGAGA MANE Select NP_000055.2:n.774-134_774-110delinsGGGCTGGAGGTGGGGCCAGGTGAGA