Canonical Allele Identifier: CA859571364

Gene: C5

Linked Data

• dbSNP Id: rs1311895896
• gnomAD v3: 9-120954120-CTT-C
• gnomAD v4: 9-120954120-CTT-C
• MyVariant Identifiers: chr9:g.123716399_123716400del (hg19) ; chr9:g.120954121_120954122del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954121_120954122del , CM000671.2:g.120954121_120954122del	GRCh38
NC_000009.11:g.123716399_123716400del , CM000671.1:g.123716399_123716400del	GRCh37
NC_000009.10:g.122756220_122756221del	NCBI36
NG_007364.1:g.101155_101156del , LRG_28:g.101155_101156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.4959_4960del
ENST00000696279.1:c.5083-254_5083-253del
ENST00000696280.1:n.4852-254_4852-253del
ENST00000696281.1:c.4781-254_4781-253del	ENSP00000512521.1:n.4781-254_4781-253del
ENST00000697921.1:n.3641-254_3641-253del
ENST00000697922.1:c.*4753-254_*4753-253del	ENSP00000513478.1:n.*4753-254_*4753-253del
ENST00000697923.1:n.8370_8371del
ENST00000223642.3:c.4763-254_4763-253del MANE Select	ENSP00000223642.1:n.4763-254_4763-253del
ENST00000223642.2:c.4763-254_4763-253del	ENSP00000223642.1:n.4763-254_4763-253del
NM_001735.2:c.4763-254_4763-253del , LRG_28t1:c.4763-254_4763-253del	NP_001726.2:n.4763-254_4763-253del
XM_011518980.1:c.4778-254_4778-253del	XP_011517282.1:n.4778-254_4778-253del
NM_001317163.1:c.4781-254_4781-253del	NP_001304092.1:n.4781-254_4781-253del
NM_001317163.2:c.4781-254_4781-253del	NP_001304092.1:n.4781-254_4781-253del
NM_001735.3:c.4763-254_4763-253del MANE Select	NP_001726.2:n.4763-254_4763-253del