Canonical Allele Identifier: CA1876862508
Gene: C5 HGNC NCBI

Linked Data

dbSNP Id: rs2046769316

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120954279del , CM000671.2:g.120954279del GRCh38
NC_000009.11:g.123716557del , CM000671.1:g.123716557del GRCh37
NC_000009.10:g.122756378del NCBI36
NG_007364.1:g.100999del , LRG_28:g.100999del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.4803del
ENST00000696279.1:c.5083-410del
ENST00000696280.1:n.4852-410del
ENST00000696281.1:c.4781-410del ENSP00000512521.1:n.4781-410del
ENST00000697921.1:n.3641-410del
ENST00000697922.1:c.*4753-410del ENSP00000513478.1:n.*4753-410del
ENST00000697923.1:n.8214del
ENST00000223642.3:c.4763-410del MANE Select ENSP00000223642.1:n.4763-410del
ENST00000223642.2:c.4763-410del ENSP00000223642.1:n.4763-410del
NM_001735.2:c.4763-410del , LRG_28t1:c.4763-410del NP_001726.2:n.4763-410del
XM_011518980.1:c.4778-410del XP_011517282.1:n.4778-410del
NM_001317163.1:c.4781-410del NP_001304092.1:n.4781-410del
NM_001317163.2:c.4781-410del NP_001304092.1:n.4781-410del
NM_001735.3:c.4763-410del MANE Select NP_001726.2:n.4763-410del