Canonical Allele Identifier: CA859575440

Gene: C5

Linked Data

• dbSNP Id: rs1457510530
• gnomAD v3: 9-120962567-AG-A
• gnomAD v4: 9-120962567-AG-A
• MyVariant Identifiers: chr9:g.123724846del (hg19) ; chr9:g.120962568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962568del , CM000671.2:g.120962568del	GRCh38
NC_000009.11:g.123724846del , CM000671.1:g.123724846del	GRCh37
NC_000009.10:g.122764667del	NCBI36
NG_007364.1:g.92709del , LRG_28:g.92709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1538+103del
ENST00000696279.1:c.4824+103del
ENST00000696280.1:n.4593+103del
ENST00000696281.1:c.4522+103del	ENSP00000512521.1:n.4522+103del
ENST00000697921.1:n.3382+103del
ENST00000697922.1:c.*4494+103del	ENSP00000513478.1:n.*4494+103del
ENST00000697923.1:n.4949+103del
ENST00000223642.3:c.4504+103del MANE Select	ENSP00000223642.1:n.4504+103del
ENST00000223642.2:c.4504+103del	ENSP00000223642.1:n.4504+103del
ENST00000480188.1:n.37+103del
NM_001735.2:c.4504+103del , LRG_28t1:c.4504+103del	NP_001726.2:n.4504+103del
XM_011518980.1:c.4519+103del	XP_011517282.1:n.4519+103del
NM_001317163.1:c.4522+103del	NP_001304092.1:n.4522+103del
NM_001317163.2:c.4522+103del	NP_001304092.1:n.4522+103del
NM_001735.3:c.4504+103del MANE Select	NP_001726.2:n.4504+103del