Canonical Allele Identifier: CA2587872379

Gene: C3

Linked Data

• gnomAD v4: 19-6681980-G-GTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6681980_6681981insTCCA , CM000681.2:g.6681980_6681981insTCCA	GRCh38
NC_000019.9:g.6681991_6681992insTCCA , CM000681.1:g.6681991_6681992insTCCA	GRCh37
NC_000019.8:g.6632991_6632992insTCCA	NCBI36
NG_009557.1:g.43671_43672insTGGA , LRG_27:g.43671_43672insTGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2658_2659insTGGA
ENST00000695653.1:c.2219_2220insTGGA	ENSP00000512084.1:p.Phe741GlyfsTer5
ENST00000695654.1:c.3335_3336insTGGA	ENSP00000512085.1:p.Phe1113GlyfsTer5
ENST00000695689.1:c.281_282insTGGA	ENSP00000512101.1:n.281_282insTGGA
ENST00000695690.1:n.501_502insTGGA
ENST00000695691.1:n.501_502insTGGA
ENST00000245907.11:c.4310_4311insTGGA MANE Select	ENSP00000245907.4:p.Phe1438GlyfsTer5
ENST00000245907.10:c.4310_4311insTGGA	ENSP00000245907.4:p.Phe1438GlyfsTer5
ENST00000596548.1:c.431_432insTGGA	ENSP00000469744.1:p.Phe145GlyfsTer5
ENST00000599899.5:n.1269_1270insTGGA
ENST00000601008.1:c.242-4023_242-4022insTGGA	ENSP00000471384.1:n.242-4023_242-4022insT...
NM_000064.3:c.4310_4311insTGGA	NP_000055.2:p.Phe1438GlyfsTer5
NM_000064.4:c.4310_4311insTGGA MANE Select	NP_000055.2:p.Phe1438GlyfsTer5