Canonical Allele Identifier: CA2587877464

Gene: C3

Linked Data

• gnomAD v4: 19-6709640-G-GCCCCCCCCCCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709640_6709641insCCCCCCCCCCCTC , CM000681.2:g.6709640_6709641insCCCCCCCCCCCTC	GRCh38
NC_000019.9:g.6709651_6709652insCCCCCCCCCCCTC , CM000681.1:g.6709651_6709652insCCCCCCCCCCCTC	GRCh37
NC_000019.8:g.6660651_6660652insCCCCCCCCCCCTC	NCBI36
NG_009557.1:g.16011_16012insGAGGGGGGGGGGG , LRG_27:g.16011_16012insGAGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.1722+43_1722+44insGAGGGGGGGGGGG	ENSP00000512083.1:n.1722+43_1722+44insGAGGGGGGGGGGG
ENST00000695654.1:c.969+43_969+44insGAGGGGGGGGGGG	ENSP00000512085.1:n.969+43_969+44insGAGGGGGGGGGGG
ENST00000695655.1:c.786+43_786+44insGAGGGGGGGGGGG	ENSP00000512086.1:n.786+43_786+44insGAGGGGGGGGGGG
ENST00000695692.1:n.1209+43_1209+44insGAGGGGGGGGGGG
ENST00000245907.11:c.1845+43_1845+44insGAGGGGGGGGGGG MANE Select	ENSP00000245907.4:n.1845+43_1845+44insGAGGGGGGGGGGG
ENST00000245907.10:c.1845+43_1845+44insGAGGGGGGGGGGG	ENSP00000245907.4:n.1845+43_1845+44insGAGGGGGGGGGGG
NM_000064.3:c.1845+43_1845+44insGAGGGGGGGGGGG	NP_000055.2:n.1845+43_1845+44insGAGGGGGGGGGGG
NM_000064.4:c.1845+43_1845+44insGAGGGGGGGGGGG MANE Select	NP_000055.2:n.1845+43_1845+44insGAGGGGGGGGGGG