Canonical Allele Identifier: CA2587873205

Gene: C3

Linked Data

• gnomAD v4: 19-6685132-C-CCTTGGCCTAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685132_6685133insCTTGGCCTAGA , CM000681.2:g.6685132_6685133insCTTGGCCTAGA	GRCh38
NC_000019.9:g.6685143_6685144insCTTGGCCTAGA , CM000681.1:g.6685143_6685144insCTTGGCCTAGA	GRCh37
NC_000019.8:g.6636143_6636144insCTTGGCCTAGA	NCBI36
NG_009557.1:g.40519_40520insTCTAGGCCAAG , LRG_27:g.40519_40520insTCTAGGCCAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2172_2173insTCTAGGCCAAG
ENST00000695653.1:c.1733_1734insTCTAGGCCAAG	ENSP00000512084.1:p.Phe579LeufsTer21
ENST00000695654.1:c.2849_2850insTCTAGGCCAAG	ENSP00000512085.1:p.Phe951LeufsTer21
ENST00000695690.1:n.15_16insTCTAGGCCAAG
ENST00000695691.1:n.15_16insTCTAGGCCAAG
ENST00000245907.11:c.3824_3825insTCTAGGCCAAG MANE Select	ENSP00000245907.4:p.Phe1276LeufsTer21
ENST00000245907.10:c.3824_3825insTCTAGGCCAAG	ENSP00000245907.4:p.Phe1276LeufsTer21
ENST00000596238.1:n.267_268insTCTAGGCCAAG
ENST00000601008.1:c.241+1613_241+1614insTCTAGGCCAAG	ENSP00000471384.1:n.241+1613_241+1614insT...
NM_000064.3:c.3824_3825insTCTAGGCCAAG	NP_000055.2:p.Phe1276LeufsTer21
NM_000064.4:c.3824_3825insTCTAGGCCAAG MANE Select	NP_000055.2:p.Phe1276LeufsTer21