Canonical Allele Identifier: CA2691480530

Gene: C5

Linked Data

• gnomAD v4: 9-120963084-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120963087_120963088del , CM000671.2:g.120963087_120963088del	GRCh38
NC_000009.11:g.123725365_123725366del , CM000671.1:g.123725365_123725366del	GRCh37
NC_000009.10:g.122765186_122765187del	NCBI36
NG_007364.1:g.92191_92192del , LRG_28:g.92191_92192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1358-119_1358-118del
ENST00000696279.1:c.4644-119_4644-118del
ENST00000696280.1:n.4413-119_4413-118del
ENST00000696281.1:c.4342-119_4342-118del	ENSP00000512521.1:n.4342-119_4342-118del
ENST00000697921.1:n.3202-119_3202-118del
ENST00000697922.1:c.*4314-119_*4314-118del	ENSP00000513478.1:n.*4314-119_*4314-118del
ENST00000697923.1:n.4769-119_4769-118del
ENST00000223642.3:c.4324-119_4324-118del MANE Select	ENSP00000223642.1:n.4324-119_4324-118del
ENST00000223642.2:c.4324-119_4324-118del	ENSP00000223642.1:n.4324-119_4324-118del
NM_001735.2:c.4324-119_4324-118del , LRG_28t1:c.4324-119_4324-118del	NP_001726.2:n.4324-119_4324-118del
XM_011518980.1:c.4339-119_4339-118del	XP_011517282.1:n.4339-119_4339-118del
NM_001317163.1:c.4342-119_4342-118del	NP_001304092.1:n.4342-119_4342-118del
NM_001317163.2:c.4342-119_4342-118del	NP_001304092.1:n.4342-119_4342-118del
NM_001735.3:c.4324-119_4324-118del MANE Select	NP_001726.2:n.4324-119_4324-118del