Canonical Allele Identifier: CA2527597057
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120954322_120954326del , CM000671.2:g.120954322_120954326del GRCh38
NC_000009.11:g.123716600_123716604del , CM000671.1:g.123716600_123716604del GRCh37
NC_000009.10:g.122756421_122756425del NCBI36
NG_007364.1:g.100951_100955del , LRG_28:g.100951_100955del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.4755_4759del
ENST00000696279.1:c.5083-458_5083-454del
ENST00000696280.1:n.4852-458_4852-454del
ENST00000696281.1:c.4781-458_4781-454del ENSP00000512521.1:n.4781-458_4781-454del
ENST00000697921.1:n.3641-458_3641-454del
ENST00000697922.1:c.*4753-458_*4753-454del ENSP00000513478.1:n.*4753-458_*4753-454del
ENST00000697923.1:n.8166_8170del
ENST00000223642.3:c.4763-458_4763-454del MANE Select ENSP00000223642.1:n.4763-458_4763-454del
ENST00000223642.2:c.4763-458_4763-454del ENSP00000223642.1:n.4763-458_4763-454del
NM_001735.2:c.4763-458_4763-454del , LRG_28t1:c.4763-458_4763-454del NP_001726.2:n.4763-458_4763-454del
XM_011518980.1:c.4778-458_4778-454del XP_011517282.1:n.4778-458_4778-454del
NM_001317163.1:c.4781-458_4781-454del NP_001304092.1:n.4781-458_4781-454del
NM_001317163.2:c.4781-458_4781-454del NP_001304092.1:n.4781-458_4781-454del
NM_001735.3:c.4763-458_4763-454del MANE Select NP_001726.2:n.4763-458_4763-454del