Canonical Allele Identifier: CA590204171

Gene: C5

Linked Data

• dbSNP Id: rs1554720233
• gnomAD v2: 9-123742877-CT-C
• MyVariant Identifiers: chr9:g.123742878del (hg19) ; chr9:g.120980600del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120980608del , CM000671.2:g.120980608del	GRCh38
NC_000009.11:g.123742886del , CM000671.1:g.123742886del	GRCh37
NC_000009.10:g.122782707del	NCBI36
NG_007364.1:g.74677del , LRG_28:g.74677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.398-346del
ENST00000696279.1:c.3807-346del
ENST00000696280.1:n.3576-346del
ENST00000696281.1:c.3505-346del	ENSP00000512521.1:n.3505-346del
ENST00000697921.1:n.2365-346del
ENST00000697922.1:c.*3477-346del	ENSP00000513478.1:n.*3477-346del
ENST00000697923.1:n.3932-346del
ENST00000223642.3:c.3487-346del MANE Select	ENSP00000223642.1:n.3487-346del
ENST00000223642.2:c.3487-346del	ENSP00000223642.1:n.3487-346del
ENST00000489802.1:n.50-346del
NM_001735.2:c.3487-346del , LRG_28t1:c.3487-346del	NP_001726.2:n.3487-346del
XM_011518980.1:c.3502-346del	XP_011517282.1:n.3502-346del
NM_001317163.1:c.3505-346del	NP_001304092.1:n.3505-346del
NM_001317163.2:c.3505-346del	NP_001304092.1:n.3505-346del
NM_001735.3:c.3487-346del MANE Select	NP_001726.2:n.3487-346del