Canonical Allele Identifier: CA5217475

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120981891del , CM000671.2:g.120981891del	GRCh38
NC_000009.11:g.123744169del , CM000671.1:g.123744169del	GRCh37
NC_000009.10:g.122783990del	NCBI36
NG_007364.1:g.73388del , LRG_28:g.73388del

Transcript Alleles

HGVS	Amino-acid Change
NM_001735.3:c.3441del MANE Select	NP_001726.2:p.Phe1147LeufsTer3
ENST00000223642.3:c.3441del MANE Select	ENSP00000223642.1:p.Phe1147LeufsTer3
NM_001317163.1:c.3459del	NP_001304092.1:p.Phe1153LeufsTer3
NM_001317163.2:c.3459del	NP_001304092.1:p.Phe1153LeufsTer3
NM_001735.2:c.3441del , LRG_28t1:c.3441del	NP_001726.2:p.Phe1147LeufsTer3
ENST00000223642.2:c.3441del	ENSP00000223642.1:p.Phe1147LeufsTer3
ENST00000480188.2:n.352del
ENST00000489802.1:n.4del
ENST00000696279.1:c.3761del
ENST00000696280.1:n.3530del
ENST00000696281.1:c.3459del	ENSP00000512521.1:p.Phe1153LeufsTer3
ENST00000697921.1:n.2319del
ENST00000697922.1:c.*3431del	ENSP00000513478.1:n.*3431del
ENST00000697923.1:n.3886del
XM_011518980.1:c.3456del	XP_011517282.1:p.Phe1152LeufsTer3
XM_011518981.1:c.3459del	XP_011517283.1:p.Phe1153LeufsTer3