Canonical Allele Identifier: CA1876868327

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120968962_120968963delinsCT , CM000671.2:g.120968962_120968963delinsCT	GRCh38
NC_000009.11:g.123731240_123731241delinsCT , CM000671.1:g.123731240_123731241delinsCT	GRCh37
NC_000009.10:g.122771061_122771062delinsCT	NCBI36
NG_007364.1:g.86314_86315delinsAG , LRG_28:g.86314_86315delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1254+98_1254+99delinsAG
ENST00000696279.1:c.4540+98_4540+99delinsAG
ENST00000696280.1:n.4309+98_4309+99delinsAG
ENST00000696281.1:c.4238+98_4238+99delinsAG	ENSP00000512521.1:n.4238+98_4238+99delinsAG
ENST00000697921.1:n.3098+98_3098+99delinsAG
ENST00000697922.1:c.*4210+98_*4210+99delinsAG	ENSP00000513478.1:n.*4210+98_*4210+99delinsAG
ENST00000697923.1:n.4665+98_4665+99delinsAG
ENST00000223642.3:c.4220+98_4220+99delinsAG MANE Select	ENSP00000223642.1:n.4220+98_4220+99delinsAG
ENST00000223642.2:c.4220+98_4220+99delinsAG	ENSP00000223642.1:n.4220+98_4220+99delinsAG
NM_001735.2:c.4220+98_4220+99delinsAG , LRG_28t1:c.4220+98_4220+99delinsAG	NP_001726.2:n.4220+98_4220+99delinsAG
XM_011518980.1:c.4235+98_4235+99delinsAG	XP_011517282.1:n.4235+98_4235+99delinsAG
NM_001317163.1:c.4238+98_4238+99delinsAG	NP_001304092.1:n.4238+98_4238+99delinsAG
NM_001317163.2:c.4238+98_4238+99delinsAG	NP_001304092.1:n.4238+98_4238+99delinsAG
NM_001735.3:c.4220+98_4220+99delinsAG MANE Select	NP_001726.2:n.4220+98_4220+99delinsAG