Canonical Allele Identifier: CA2520909946
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120980544_120980545del , CM000671.2:g.120980544_120980545del GRCh38
NC_000009.11:g.123742822_123742823del , CM000671.1:g.123742822_123742823del GRCh37
NC_000009.10:g.122782643_122782644del NCBI36
NG_007364.1:g.74733_74734del , LRG_28:g.74733_74734del

Transcript Alleles

HGVS Amino-acid change
ENST00000480188.2:n.398-290_398-289del
ENST00000696279.1:c.3807-290_3807-289del
ENST00000696280.1:n.3576-290_3576-289del
ENST00000696281.1:c.3505-290_3505-289del ENSP00000512521.1:n.3505-290_3505-289del
ENST00000697921.1:n.2365-290_2365-289del
ENST00000697922.1:c.*3477-290_*3477-289del ENSP00000513478.1:n.*3477-290_*3477-289de...
ENST00000697923.1:n.3932-290_3932-289del
ENST00000223642.3:c.3487-290_3487-289del MANE Select ENSP00000223642.1:n.3487-290_3487-289del
ENST00000223642.2:c.3487-290_3487-289del ENSP00000223642.1:n.3487-290_3487-289del
ENST00000489802.1:n.50-290_50-289del
NM_001735.2:c.3487-290_3487-289del , LRG_28t1:c.3487-290_3487-289del NP_001726.2:n.3487-290_3487-289del
XM_011518980.1:c.3502-290_3502-289del XP_011517282.1:n.3502-290_3502-289del
NM_001317163.1:c.3505-290_3505-289del NP_001304092.1:n.3505-290_3505-289del
NM_001317163.2:c.3505-290_3505-289del NP_001304092.1:n.3505-290_3505-289del
NM_001735.3:c.3487-290_3487-289del MANE Select NP_001726.2:n.3487-290_3487-289del