Canonical Allele Identifier: CA918548862
Gene: C5 HGNC NCBI

Linked Data

dbSNP Id: rs1588166073

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120963108del , CM000671.2:g.120963108del GRCh38
NC_000009.11:g.123725386del , CM000671.1:g.123725386del GRCh37
NC_000009.10:g.122765207del NCBI36
NG_007364.1:g.92173del , LRG_28:g.92173del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1358-137del
ENST00000696279.1:c.4644-137del
ENST00000696280.1:n.4413-137del
ENST00000696281.1:c.4342-137del ENSP00000512521.1:n.4342-137del
ENST00000697921.1:n.3202-137del
ENST00000697922.1:c.*4314-137del ENSP00000513478.1:n.*4314-137del
ENST00000697923.1:n.4769-137del
ENST00000223642.3:c.4324-137del MANE Select ENSP00000223642.1:n.4324-137del
ENST00000223642.2:c.4324-137del ENSP00000223642.1:n.4324-137del
NM_001735.2:c.4324-137del , LRG_28t1:c.4324-137del NP_001726.2:n.4324-137del
XM_011518980.1:c.4339-137del XP_011517282.1:n.4339-137del
NM_001317163.1:c.4342-137del NP_001304092.1:n.4342-137del
NM_001317163.2:c.4342-137del NP_001304092.1:n.4342-137del
NM_001735.3:c.4324-137del MANE Select NP_001726.2:n.4324-137del