Canonical Allele Identifier: CA2691480782

Gene: C5

Linked Data

• gnomAD v4: 9-120969144-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120969146_120969147del , CM000671.2:g.120969146_120969147del	GRCh38
NC_000009.11:g.123731424_123731425del , CM000671.1:g.123731424_123731425del	GRCh37
NC_000009.10:g.122771245_122771246del	NCBI36
NG_007364.1:g.86131_86132del , LRG_28:g.86131_86132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1197-28_1197-27del
ENST00000696279.1:c.4483-28_4483-27del
ENST00000696280.1:n.4252-28_4252-27del
ENST00000696281.1:c.4181-28_4181-27del	ENSP00000512521.1:n.4181-28_4181-27del
ENST00000697921.1:n.3041-28_3041-27del
ENST00000697922.1:c.*4153-28_*4153-27del	ENSP00000513478.1:n.*4153-28_*4153-27del
ENST00000697923.1:n.4608-28_4608-27del
ENST00000223642.3:c.4163-28_4163-27del MANE Select	ENSP00000223642.1:n.4163-28_4163-27del
ENST00000223642.2:c.4163-28_4163-27del	ENSP00000223642.1:n.4163-28_4163-27del
NM_001735.2:c.4163-28_4163-27del , LRG_28t1:c.4163-28_4163-27del	NP_001726.2:n.4163-28_4163-27del
XM_011518980.1:c.4178-28_4178-27del	XP_011517282.1:n.4178-28_4178-27del
NM_001317163.1:c.4181-28_4181-27del	NP_001304092.1:n.4181-28_4181-27del
NM_001317163.2:c.4181-28_4181-27del	NP_001304092.1:n.4181-28_4181-27del
NM_001735.3:c.4163-28_4163-27del MANE Select	NP_001726.2:n.4163-28_4163-27del