Canonical Allele Identifier: CA2587877089

Gene: C3

Linked Data

• gnomAD v4: 19-6709611-T-TTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709611_6709612insTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTGC , CM000681.2:g.6709611_6709612insTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTGC	GRCh38
NC_000019.9:g.6709622_6709623insTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTGC , CM000681.1:g.6709622_6709623insTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTGC	GRCh37
NC_000019.8:g.6660622_6660623insTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTGC	NCBI36
NG_009557.1:g.16040_16041insGCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA , LRG_27:g.16040_16041insGCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1722+72_1722+73insGCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	ENSP00000512083.1:n.1722+72_1722+73insGCAGGGGGGGGGGGGGGGGGGGG...
ENST00000695654.1:c.969+72_969+73insGCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	ENSP00000512085.1:n.969+72_969+73insGCAGGGGGGGGGGGGGGGGGGGGGG...
ENST00000695655.1:c.786+72_786+73insGCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	ENSP00000512086.1:n.786+72_786+73insGCAGGGGGGGGGGGGGGGGGGGGGG...
ENST00000695692.1:n.1209+72_1209+73insGCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA
ENST00000245907.11:c.1845+72_1845+73insGCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA MANE Select	ENSP00000245907.4:n.1845+72_1845+73insGCAGGGGGGGGGGGGGGGGGGGG...
ENST00000245907.10:c.1845+72_1845+73insGCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	ENSP00000245907.4:n.1845+72_1845+73insGCAGGGGGGGGGGGGGGGGGGGG...
NM_000064.3:c.1845+72_1845+73insGCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA	NP_000055.2:n.1845+72_1845+73insGCAGGGGGGGGGGGGGGGGGGGGGGGGGG...
NM_000064.4:c.1845+72_1845+73insGCAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGA MANE Select	NP_000055.2:n.1845+72_1845+73insGCAGGGGGGGGGGGGGGGGGGGGGGGGGG...