Canonical Allele Identifier: CA2545285235
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120954339_120954340del , CM000671.2:g.120954339_120954340del GRCh38
NC_000009.11:g.123716617_123716618del , CM000671.1:g.123716617_123716618del GRCh37
NC_000009.10:g.122756438_122756439del NCBI36
NG_007364.1:g.100937_100938del , LRG_28:g.100937_100938del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.4741_4742del
ENST00000696279.1:c.5083-472_5083-471del
ENST00000696280.1:n.4852-472_4852-471del
ENST00000696281.1:c.4781-472_4781-471del ENSP00000512521.1:n.4781-472_4781-471del
ENST00000697921.1:n.3641-472_3641-471del
ENST00000697922.1:c.*4753-472_*4753-471del ENSP00000513478.1:n.*4753-472_*4753-471del
ENST00000697923.1:n.8152_8153del
ENST00000223642.3:c.4763-472_4763-471del MANE Select ENSP00000223642.1:n.4763-472_4763-471del
ENST00000223642.2:c.4763-472_4763-471del ENSP00000223642.1:n.4763-472_4763-471del
NM_001735.2:c.4763-472_4763-471del , LRG_28t1:c.4763-472_4763-471del NP_001726.2:n.4763-472_4763-471del
XM_011518980.1:c.4778-472_4778-471del XP_011517282.1:n.4778-472_4778-471del
NM_001317163.1:c.4781-472_4781-471del NP_001304092.1:n.4781-472_4781-471del
NM_001317163.2:c.4781-472_4781-471del NP_001304092.1:n.4781-472_4781-471del
NM_001735.3:c.4763-472_4763-471del MANE Select NP_001726.2:n.4763-472_4763-471del