Canonical Allele Identifier: CA2587872357

Gene: C3

Linked Data

• gnomAD v4: 19-6681973-CGGAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6681974_6681978del , CM000681.2:g.6681974_6681978del	GRCh38
NC_000019.9:g.6681985_6681989del , CM000681.1:g.6681985_6681989del	GRCh37
NC_000019.8:g.6632985_6632989del	NCBI36
NG_009557.1:g.43674_43678del , LRG_27:g.43674_43678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2661_2665del
ENST00000695653.1:c.2222_2226del	ENSP00000512084.1:p.Phe741Ter
ENST00000695654.1:c.3338_3342del	ENSP00000512085.1:p.Phe1113Ter
ENST00000695689.1:c.284_288del	ENSP00000512101.1:n.284_288del
ENST00000695690.1:n.504_508del
ENST00000695691.1:n.504_508del
ENST00000245907.11:c.4313_4317del MANE Select	ENSP00000245907.4:p.Phe1438Ter
ENST00000245907.10:c.4313_4317del	ENSP00000245907.4:p.Phe1438Ter
ENST00000596548.1:c.434_438del	ENSP00000469744.1:p.Phe145Ter
ENST00000599899.5:n.1272_1276del
ENST00000601008.1:c.242-4020_242-4016del	ENSP00000471384.1:n.242-4020_242-4016del
NM_000064.3:c.4313_4317del	NP_000055.2:p.Phe1438Ter
NM_000064.4:c.4313_4317del MANE Select	NP_000055.2:p.Phe1438Ter