Canonical Allele Identifier: CA631722529

Gene: C3

Linked Data

• gnomAD v2: 19-6709646-G-GCCCCCC
• gnomAD v3: 19-6709635-G-GCCCCCC
• gnomAD v4: 19-6709635-G-GCCCCCC
• MyVariant Identifiers: chr19:g.6709646_6709647insCCCCCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709636_6709637insCCCCCC , CM000681.2:g.6709636_6709637insCCCCCC	GRCh38
NC_000019.9:g.6709647_6709648insCCCCCC , CM000681.1:g.6709647_6709648insCCCCCC	GRCh37
NC_000019.8:g.6660647_6660648insCCCCCC	NCBI36
NG_009557.1:g.16016_16017insGGGGGG , LRG_27:g.16016_16017insGGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.1722+48_1722+49insGGGGGG	ENSP00000512083.1:n.1722+48_1722+49insGGGGGG
ENST00000695654.1:c.969+48_969+49insGGGGGG	ENSP00000512085.1:n.969+48_969+49insGGGGGG
ENST00000695655.1:c.786+48_786+49insGGGGGG	ENSP00000512086.1:n.786+48_786+49insGGGGGG
ENST00000695692.1:n.1209+48_1209+49insGGGGGG
ENST00000245907.11:c.1845+48_1845+49insGGGGGG MANE Select	ENSP00000245907.4:n.1845+48_1845+49insGGGGGG
ENST00000245907.10:c.1845+48_1845+49insGGGGGG	ENSP00000245907.4:n.1845+48_1845+49insGGGGGG
NM_000064.3:c.1845+48_1845+49insGGGGGG	NP_000055.2:n.1845+48_1845+49insGGGGGG
NM_000064.4:c.1845+48_1845+49insGGGGGG MANE Select	NP_000055.2:n.1845+48_1845+49insGGGGGG