Canonical Allele Identifier: CA199379996

Gene: C5

Linked Data

• dbSNP Id: rs368712674
• gnomAD v2: 9-123716896-C-CT
• gnomAD v3: 9-120954618-C-CT
• gnomAD v4: 9-120954618-C-CT
• MyVariant Identifiers: chr9:g.123716896_123716897insT (hg19) ; chr9:g.120954618_120954619insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954619dup , CM000671.2:g.120954619dup	GRCh38
NC_000009.11:g.123716897dup , CM000671.1:g.123716897dup	GRCh37
NC_000009.10:g.122756718dup	NCBI36
NG_007364.1:g.100658dup , LRG_28:g.100658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.4462dup
ENST00000696279.1:c.5083-751dup
ENST00000696280.1:n.4852-751dup
ENST00000696281.1:c.4781-751dup	ENSP00000512521.1:n.4781-751dup
ENST00000697921.1:n.3641-751dup
ENST00000697922.1:c.*4753-751dup	ENSP00000513478.1:n.*4753-751dup
ENST00000697923.1:n.7873dup
ENST00000223642.3:c.4763-751dup MANE Select	ENSP00000223642.1:n.4763-751dup
ENST00000223642.2:c.4763-751dup	ENSP00000223642.1:n.4763-751dup
NM_001735.2:c.4763-751dup , LRG_28t1:c.4763-751dup	NP_001726.2:n.4763-751dup
XM_011518980.1:c.4778-751dup	XP_011517282.1:n.4778-751dup
NM_001317163.1:c.4781-751dup	NP_001304092.1:n.4781-751dup
NM_001317163.2:c.4781-751dup	NP_001304092.1:n.4781-751dup
NM_001735.3:c.4763-751dup MANE Select	NP_001726.2:n.4763-751dup