Canonical Allele Identifier: CA993077751

Gene: C3

Linked Data

• gnomAD v3: 19-6713627-GGCCCCACCTCCAGCCCCTCACCTGGCCCCACCCCCAGCCCCCCACCTT-G
• gnomAD v4: 19-6713627-GGCCCCACCTCCAGCCCCTCACCTGGCCCCACCCCCAGCCCCCCACCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713635_6713682del , CM000681.2:g.6713635_6713682del	GRCh38
NC_000019.9:g.6713646_6713693del , CM000681.1:g.6713646_6713693del	GRCh37
NC_000019.8:g.6664646_6664693del	NCBI36
NG_009557.1:g.11977_12024del , LRG_27:g.11977_12024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.651-166_651-119del	ENSP00000512083.1:n.651-166_651-119del
ENST00000245907.11:c.774-166_774-119del MANE Select	ENSP00000245907.4:n.774-166_774-119del
ENST00000245907.10:c.774-166_774-119del	ENSP00000245907.4:n.774-166_774-119del
ENST00000595577.1:n.278-166_278-119del
ENST00000597442.5:n.23+91_24-119del
NM_000064.3:c.774-166_774-119del	NP_000055.2:n.774-166_774-119del
NM_000064.4:c.774-166_774-119del MANE Select	NP_000055.2:n.774-166_774-119del