Canonical Allele Identifier: CA2579437580

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962674del , CM000671.2:g.120962674del	GRCh38
NC_000009.11:g.123724952del , CM000671.1:g.123724952del	GRCh37
NC_000009.10:g.122764773del	NCBI36
NG_007364.1:g.92604del , LRG_28:g.92604del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1536del
ENST00000696279.1:c.4822del
ENST00000696280.1:n.4591del
ENST00000696281.1:c.4520del	ENSP00000512521.1:p.Pro1507GlnfsTer28
ENST00000697921.1:n.3380del
ENST00000697922.1:c.*4492del	ENSP00000513478.1:n.*4492del
ENST00000697923.1:n.4947del
ENST00000223642.3:c.4502del MANE Select	ENSP00000223642.1:p.Pro1501GlnfsTer28
ENST00000223642.2:c.4502del	ENSP00000223642.1:p.Pro1501GlnfsTer28
ENST00000480188.1:n.35del
NM_001735.2:c.4502del , LRG_28t1:c.4502del	NP_001726.2:p.Pro1501GlnfsTer28
XM_011518980.1:c.4517del	XP_011517282.1:p.Pro1506GlnfsTer28
NM_001317163.1:c.4520del	NP_001304092.1:p.Pro1507GlnfsTer28
NM_001317163.2:c.4520del	NP_001304092.1:p.Pro1507GlnfsTer28
NM_001735.3:c.4502del MANE Select	NP_001726.2:p.Pro1501GlnfsTer28