Canonical Allele Identifier: CA590208711

Gene: C5

Linked Data

• dbSNP Id: rs1374235093
• gnomAD v2: 9-123769065-A-AT
• gnomAD v3: 9-121006787-A-AT
• gnomAD v4: 9-121006787-A-AT
• MyVariant Identifiers: chr9:g.123769065_123769066insT (hg19) ; chr9:g.121006787_121006788insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121006793dup , CM000671.2:g.121006793dup	GRCh38
NC_000009.11:g.123769071dup , CM000671.1:g.123769071dup	GRCh37
NC_000009.10:g.122808892dup	NCBI36
NG_007364.1:g.48489dup , LRG_28:g.48489dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.1417+116dup	ENSP00000513491.1:n.1417+116dup
ENST00000696279.1:c.2742+116dup
ENST00000696280.1:n.2511+116dup
ENST00000696281.1:c.2440+116dup	ENSP00000512521.1:n.2440+116dup
ENST00000697921.1:n.1300+116dup
ENST00000697922.1:c.*2412+116dup	ENSP00000513478.1:n.*2412+116dup
ENST00000697923.1:n.3027+116dup
ENST00000223642.3:c.2422+116dup MANE Select	ENSP00000223642.1:n.2422+116dup
ENST00000223642.2:c.2422+116dup	ENSP00000223642.1:n.2422+116dup
ENST00000466280.1:n.25+116dup
NM_001735.2:c.2422+116dup , LRG_28t1:c.2422+116dup	NP_001726.2:n.2422+116dup
XM_011518980.1:c.2437+116dup	XP_011517282.1:n.2437+116dup
XM_011518981.1:c.2440+116dup	XP_011517283.1:n.2440+116dup
NM_001317163.1:c.2440+116dup	NP_001304092.1:n.2440+116dup
NM_001317164.1:c.2422+116dup	NP_001304093.1:n.2422+116dup
NM_001317163.2:c.2440+116dup	NP_001304092.1:n.2440+116dup
NM_001317164.2:c.2422+116dup	NP_001304093.1:n.2422+116dup
NM_001735.3:c.2422+116dup MANE Select	NP_001726.2:n.2422+116dup