Canonical Allele Identifier: CA2587878565

Gene: C3

Linked Data

• gnomAD v4: 19-6713846-A-ACCCCCAGCCCCCCACCTTCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713863_6713864insTCCCCCCCCCCAGCCCCCCACCT , CM000681.2:g.6713863_6713864insTCCCCCCCCCCAGCCCCCCACCT	GRCh38
NC_000019.9:g.6713874_6713875insTCCCCCCCCCCAGCCCCCCACCT , CM000681.1:g.6713874_6713875insTCCCCCCCCCCAGCCCCCCACCT	GRCh37
NC_000019.8:g.6664874_6664875insTCCCCCCCCCCAGCCCCCCACCT	NCBI36
NG_009557.1:g.11805_11806insGGGGGAAGGTGGGGGGCTGGGGG , LRG_27:g.11805_11806insGGGGGAAGGTGGGGGGCTGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.650+145_650+146insGGGGGAAGGTGGGGGGCTGGGGG	ENSP00000512083.1:n.650+145_650+146insGGGGGAAGGTGGGGGGCTGGGGG...
ENST00000245907.11:c.773+145_773+146insGGGGGAAGGTGGGGGGCTGGGGG MANE Select	ENSP00000245907.4:n.773+145_773+146insGGGGGAAGGTGGGGGGCTGGGGG...
ENST00000245907.10:c.773+145_773+146insGGGGGAAGGTGGGGGGCTGGGGG	ENSP00000245907.4:n.773+145_773+146insGGGGGAAGGTGGGGGGCTGGGGG...
ENST00000595577.1:n.277+145_277+146insGGGGGAAGGTGGGGGGCTGGGGG
NM_000064.3:c.773+145_773+146insGGGGGAAGGTGGGGGGCTGGGGG	NP_000055.2:n.773+145_773+146insGGGGGAAGGTGGGGGGCTGGGGG
NM_000064.4:c.773+145_773+146insGGGGGAAGGTGGGGGGCTGGGGG MANE Select	NP_000055.2:n.773+145_773+146insGGGGGAAGGTGGGGGGCTGGGGG