Canonical Allele Identifier: CA2587877637

Gene: C3

Linked Data

• gnomAD v4: 19-6709984-A-AGAAAGGGAGAGAGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709986_6709987insAAGGGAGAGAGGGGGGGA , CM000681.2:g.6709986_6709987insAAGGGAGAGAGGGGGGGA	GRCh38
NC_000019.9:g.6709997_6709998insAAGGGAGAGAGGGGGGGA , CM000681.1:g.6709997_6709998insAAGGGAGAGAGGGGGGGA	GRCh37
NC_000019.8:g.6660997_6660998insAAGGGAGAGAGGGGGGGA	NCBI36
NG_009557.1:g.15667_15668insCCCCCCTCTCTCCCTTTC , LRG_27:g.15667_15668insCCCCCCTCTCTCCCTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-143_1564-142insCCCCCCTCTCTCCCTTTC	ENSP00000512083.1:n.1564-143_1564-142insCCCCCCTCTCTCCCTTTC
ENST00000695654.1:c.811-143_811-142insCCCCCCTCTCTCCCTTTC	ENSP00000512085.1:n.811-143_811-142insCCCCCCTCTCTCCCTTTC
ENST00000695655.1:c.592-107_592-106insCCCCCCTCTCTCCCTTTC	ENSP00000512086.1:n.592-107_592-106insCCCCCCTCTCTCCCTTTC
ENST00000695692.1:n.1051-143_1051-142insCCCCCCTCTCTCCCTTTC
ENST00000245907.11:c.1687-143_1687-142insCCCCCCTCTCTCCCTTTC MANE Select	ENSP00000245907.4:n.1687-143_1687-142insCCCCCCTCTCTCCCTTTC
ENST00000245907.10:c.1687-143_1687-142insCCCCCCTCTCTCCCTTTC	ENSP00000245907.4:n.1687-143_1687-142insCCCCCCTCTCTCCCTTTC
ENST00000600763.1:n.320-143_320-142insCCCCCCTCTCTCCCTTTC
NM_000064.3:c.1687-143_1687-142insCCCCCCTCTCTCCCTTTC	NP_000055.2:n.1687-143_1687-142insCCCCCCTCTCTCCCTTTC
NM_000064.4:c.1687-143_1687-142insCCCCCCTCTCTCCCTTTC MANE Select	NP_000055.2:n.1687-143_1687-142insCCCCCCTCTCTCCCTTTC