Canonical Allele Identifier: CA658797265

Gene: C5

Linked Data

• ClinVar Variation Id: 517604
• ClinVar RCV Id: RCV000601577
• dbSNP Id: rs1554718962
• gnomAD v4: 9-120962954-AC-A
• MyVariant Identifiers: chr9:g.123725233del (hg19) ; chr9:g.120962955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962958del , CM000671.2:g.120962958del	GRCh38
NC_000009.11:g.123725236del , CM000671.1:g.123725236del	GRCh37
NC_000009.10:g.122765057del	NCBI36
NG_007364.1:g.92322del , LRG_28:g.92322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1370del
ENST00000696279.1:c.4656del
ENST00000696280.1:n.4425del
ENST00000696281.1:c.4354del	ENSP00000512521.1:p.Val1452TrpfsTer19
ENST00000697921.1:n.3214del
ENST00000697922.1:c.*4326del	ENSP00000513478.1:n.*4326del
ENST00000697923.1:n.4781del
ENST00000223642.3:c.4336del MANE Select	ENSP00000223642.1:p.Val1446TrpfsTer19
ENST00000223642.2:c.4336del	ENSP00000223642.1:p.Val1446TrpfsTer19
NM_001735.2:c.4336del , LRG_28t1:c.4336del	NP_001726.2:p.Val1446TrpfsTer19
XM_011518980.1:c.4351del	XP_011517282.1:p.Val1451TrpfsTer19
NM_001317163.1:c.4354del	NP_001304092.1:p.Val1452TrpfsTer19
NM_001317163.2:c.4354del	NP_001304092.1:p.Val1452TrpfsTer19
NM_001735.3:c.4336del MANE Select	NP_001726.2:p.Val1446TrpfsTer19