Canonical Allele Identifier: CA1876868372

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120969054_120969058delinsGGCTC , CM000671.2:g.120969054_120969058delinsGGCTC	GRCh38
NC_000009.11:g.123731332_123731336delinsGGCTC , CM000671.1:g.123731332_123731336delinsGGCTC	GRCh37
NC_000009.10:g.122771153_122771157delinsGGCTC	NCBI36
NG_007364.1:g.86219_86223delinsGAGCC , LRG_28:g.86219_86223delinsGAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1254+3_1254+7delinsGAGCC
ENST00000696279.1:c.4540+3_4540+7delinsGAGCC
ENST00000696280.1:n.4309+3_4309+7delinsGAGCC
ENST00000696281.1:c.4238+3_4238+7delinsGAGCC	ENSP00000512521.1:n.4238+3_4238+7delinsGAGCC
ENST00000697921.1:n.3098+3_3098+7delinsGAGCC
ENST00000697922.1:c.*4210+3_*4210+7delinsGAGCC	ENSP00000513478.1:n.*4210+3_*4210+7delinsGAGCC
ENST00000697923.1:n.4665+3_4665+7delinsGAGCC
ENST00000223642.3:c.4220+3_4220+7delinsGAGCC MANE Select	ENSP00000223642.1:n.4220+3_4220+7delinsGAGCC
ENST00000223642.2:c.4220+3_4220+7delinsGAGCC	ENSP00000223642.1:n.4220+3_4220+7delinsGAGCC
NM_001735.2:c.4220+3_4220+7delinsGAGCC , LRG_28t1:c.4220+3_4220+7delinsGAGCC	NP_001726.2:n.4220+3_4220+7delinsGAGCC
XM_011518980.1:c.4235+3_4235+7delinsGAGCC	XP_011517282.1:n.4235+3_4235+7delinsGAGCC
NM_001317163.1:c.4238+3_4238+7delinsGAGCC	NP_001304092.1:n.4238+3_4238+7delinsGAGCC
NM_001317163.2:c.4238+3_4238+7delinsGAGCC	NP_001304092.1:n.4238+3_4238+7delinsGAGCC
NM_001735.3:c.4220+3_4220+7delinsGAGCC MANE Select	NP_001726.2:n.4220+3_4220+7delinsGAGCC