Canonical Allele Identifier: CA2785814909

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962728_120962729insCACACCCAACACA , CM000671.2:g.120962728_120962729insCACACCCAACACA	GRCh38
NC_000009.11:g.123725006_123725007insCACACCCAACACA , CM000671.1:g.123725006_123725007insCACACCCAACACA	GRCh37
NC_000009.10:g.122764827_122764828insCACACCCAACACA	NCBI36
NG_007364.1:g.92549_92550insGTGTTGGGTGTGT , LRG_28:g.92549_92550insGTGTTGGGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1481_1482insGTGTTGGGTGTGT
ENST00000696279.1:c.4767_4768insGTGTTGGGTGTGT
ENST00000696280.1:n.4536_4537insGTGTTGGGTGTGT
ENST00000696281.1:c.4465_4466insGTGTTGGGTGTGT	ENSP00000512521.1:p.Phe1489CysfsTer6
ENST00000697921.1:n.3325_3326insGTGTTGGGTGTGT
ENST00000697922.1:c.*4437_*4438insGTGTTGGGTGTGT	ENSP00000513478.1:n.*4437_*4438insGTGTTGGGTGTGT
ENST00000697923.1:n.4892_4893insGTGTTGGGTGTGT
ENST00000223642.3:c.4447_4448insGTGTTGGGTGTGT MANE Select	ENSP00000223642.1:p.Phe1483CysfsTer6
ENST00000223642.2:c.4447_4448insGTGTTGGGTGTGT	ENSP00000223642.1:p.Phe1483CysfsTer6
NM_001735.2:c.4447_4448insGTGTTGGGTGTGT , LRG_28t1:c.4447_4448insGTGTTGGGTGTGT	NP_001726.2:p.Phe1483CysfsTer6
XM_011518980.1:c.4462_4463insGTGTTGGGTGTGT	XP_011517282.1:p.Phe1488CysfsTer6
NM_001317163.1:c.4465_4466insGTGTTGGGTGTGT	NP_001304092.1:p.Phe1489CysfsTer6
NM_001317163.2:c.4465_4466insGTGTTGGGTGTGT	NP_001304092.1:p.Phe1489CysfsTer6
NM_001735.3:c.4447_4448insGTGTTGGGTGTGT MANE Select	NP_001726.2:p.Phe1483CysfsTer6