Canonical Allele Identifier: CA2785814911

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962729_120962730insGTTT , CM000671.2:g.120962729_120962730insGTTT	GRCh38
NC_000009.11:g.123725007_123725008insGTTT , CM000671.1:g.123725007_123725008insGTTT	GRCh37
NC_000009.10:g.122764828_122764829insGTTT	NCBI36
NG_007364.1:g.92547_92548insAAAC , LRG_28:g.92547_92548insAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1479_1480insAAAC
ENST00000696279.1:c.4765_4766insAAAC
ENST00000696280.1:n.4534_4535insAAAC
ENST00000696281.1:c.4463_4464insAAAC	ENSP00000512521.1:p.Phe1489AsnfsTer3
ENST00000697921.1:n.3323_3324insAAAC
ENST00000697922.1:c.*4435_*4436insAAAC	ENSP00000513478.1:n.*4435_*4436insAAAC
ENST00000697923.1:n.4890_4891insAAAC
ENST00000223642.3:c.4445_4446insAAAC MANE Select	ENSP00000223642.1:p.Phe1483AsnfsTer3
ENST00000223642.2:c.4445_4446insAAAC	ENSP00000223642.1:p.Phe1483AsnfsTer3
NM_001735.2:c.4445_4446insAAAC , LRG_28t1:c.4445_4446insAAAC	NP_001726.2:p.Phe1483AsnfsTer3
XM_011518980.1:c.4460_4461insAAAC	XP_011517282.1:p.Phe1488AsnfsTer3
NM_001317163.1:c.4463_4464insAAAC	NP_001304092.1:p.Phe1489AsnfsTer3
NM_001317163.2:c.4463_4464insAAAC	NP_001304092.1:p.Phe1489AsnfsTer3
NM_001735.3:c.4445_4446insAAAC MANE Select	NP_001726.2:p.Phe1483AsnfsTer3