Canonical Allele Identifier: CA859575382

Gene: C5

Linked Data

• dbSNP Id: rs1185225150
• gnomAD v3: 9-120962392-CT-C
• gnomAD v4: 9-120962392-CT-C
• MyVariant Identifiers: chr9:g.123724671del (hg19) ; chr9:g.120962393del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962393del , CM000671.2:g.120962393del	GRCh38
NC_000009.11:g.123724671del , CM000671.1:g.123724671del	GRCh37
NC_000009.10:g.122764492del	NCBI36
NG_007364.1:g.92884del , LRG_28:g.92884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1538+278del
ENST00000696279.1:c.4824+278del
ENST00000696280.1:n.4593+278del
ENST00000696281.1:c.4522+278del	ENSP00000512521.1:n.4522+278del
ENST00000697921.1:n.3382+278del
ENST00000697922.1:c.*4494+278del	ENSP00000513478.1:n.*4494+278del
ENST00000697923.1:n.4949+278del
ENST00000223642.3:c.4504+278del MANE Select	ENSP00000223642.1:n.4504+278del
ENST00000223642.2:c.4504+278del	ENSP00000223642.1:n.4504+278del
ENST00000480188.1:n.37+278del
NM_001735.2:c.4504+278del , LRG_28t1:c.4504+278del	NP_001726.2:n.4504+278del
XM_011518980.1:c.4519+278del	XP_011517282.1:n.4519+278del
NM_001317163.1:c.4522+278del	NP_001304092.1:n.4522+278del
NM_001317163.2:c.4522+278del	NP_001304092.1:n.4522+278del
NM_001735.3:c.4504+278del MANE Select	NP_001726.2:n.4504+278del