Canonical Allele Identifier: CA2691480524

Gene: C5

Linked Data

• gnomAD v4: 9-120963074-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120963074_120963075insC , CM000671.2:g.120963074_120963075insC	GRCh38
NC_000009.11:g.123725352_123725353insC , CM000671.1:g.123725352_123725353insC	GRCh37
NC_000009.10:g.122765173_122765174insC	NCBI36
NG_007364.1:g.92202_92203insG , LRG_28:g.92202_92203insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1358-108_1358-107insG
ENST00000696279.1:c.4644-108_4644-107insG
ENST00000696280.1:n.4413-108_4413-107insG
ENST00000696281.1:c.4342-108_4342-107insG	ENSP00000512521.1:n.4342-108_4342-107insG
ENST00000697921.1:n.3202-108_3202-107insG
ENST00000697922.1:c.*4314-108_*4314-107insG	ENSP00000513478.1:n.*4314-108_*4314-107insG
ENST00000697923.1:n.4769-108_4769-107insG
ENST00000223642.3:c.4324-108_4324-107insG MANE Select	ENSP00000223642.1:n.4324-108_4324-107insG
ENST00000223642.2:c.4324-108_4324-107insG	ENSP00000223642.1:n.4324-108_4324-107insG
NM_001735.2:c.4324-108_4324-107insG , LRG_28t1:c.4324-108_4324-107insG	NP_001726.2:n.4324-108_4324-107insG
XM_011518980.1:c.4339-108_4339-107insG	XP_011517282.1:n.4339-108_4339-107insG
NM_001317163.1:c.4342-108_4342-107insG	NP_001304092.1:n.4342-108_4342-107insG
NM_001317163.2:c.4342-108_4342-107insG	NP_001304092.1:n.4342-108_4342-107insG
NM_001735.3:c.4324-108_4324-107insG MANE Select	NP_001726.2:n.4324-108_4324-107insG