Canonical Allele Identifier: CA2587871872
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6679512-ATG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679515_6679516del , CM000681.2:g.6679515_6679516del GRCh38
NC_000019.9:g.6679526_6679527del , CM000681.1:g.6679526_6679527del GRCh37
NC_000019.8:g.6630526_6630527del NCBI36
NG_009557.1:g.46138_46139del , LRG_27:g.46138_46139del

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2805-18_2805-17del
ENST00000695653.1:c.2366-18_2366-17del ENSP00000512084.1:n.2366-18_2366-17del
ENST00000695654.1:c.3482-18_3482-17del ENSP00000512085.1:n.3482-18_3482-17del
ENST00000695689.1:c.428-18_428-17del ENSP00000512101.1:n.428-18_428-17del
ENST00000695690.1:n.1522-18_1522-17del
ENST00000695691.1:n.1318-18_1318-17del
ENST00000245907.11:c.4457-18_4457-17del MANE Select ENSP00000245907.4:n.4457-18_4457-17del
ENST00000245907.10:c.4457-18_4457-17del ENSP00000245907.4:n.4457-18_4457-17del
ENST00000599668.1:n.52-18_52-17del
ENST00000599899.5:n.1416-18_1416-17del
ENST00000601008.1:c.242-1556_242-1555del ENSP00000471384.1:n.242-1556_242-1555del
NM_000064.3:c.4457-18_4457-17del NP_000055.2:n.4457-18_4457-17del
NM_000064.4:c.4457-18_4457-17del MANE Select NP_000055.2:n.4457-18_4457-17del
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