Canonical Allele Identifier: CA2785814910

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962727_120962728insTATTCTTTGCCTC , CM000671.2:g.120962727_120962728insTATTCTTTGCCTC	GRCh38
NC_000009.11:g.123725005_123725006insTATTCTTTGCCTC , CM000671.1:g.123725005_123725006insTATTCTTTGCCTC	GRCh37
NC_000009.10:g.122764826_122764827insTATTCTTTGCCTC	NCBI36
NG_007364.1:g.92549_92550insGAGGCAAAGAATA , LRG_28:g.92549_92550insGAGGCAAAGAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1481_1482insGAGGCAAAGAATA
ENST00000696279.1:c.4767_4768insGAGGCAAAGAATA
ENST00000696280.1:n.4536_4537insGAGGCAAAGAATA
ENST00000696281.1:c.4465_4466insGAGGCAAAGAATA	ENSP00000512521.1:p.Phe1489Ter
ENST00000697921.1:n.3325_3326insGAGGCAAAGAATA
ENST00000697922.1:c.*4437_*4438insGAGGCAAAGAATA	ENSP00000513478.1:n.*4437_*4438insGAGGCAAAGAATA
ENST00000697923.1:n.4892_4893insGAGGCAAAGAATA
ENST00000223642.3:c.4447_4448insGAGGCAAAGAATA MANE Select	ENSP00000223642.1:p.Phe1483Ter
ENST00000223642.2:c.4447_4448insGAGGCAAAGAATA	ENSP00000223642.1:p.Phe1483Ter
NM_001735.2:c.4447_4448insGAGGCAAAGAATA , LRG_28t1:c.4447_4448insGAGGCAAAGAATA	NP_001726.2:p.Phe1483Ter
XM_011518980.1:c.4462_4463insGAGGCAAAGAATA	XP_011517282.1:p.Phe1488Ter
NM_001317163.1:c.4465_4466insGAGGCAAAGAATA	NP_001304092.1:p.Phe1489Ter
NM_001317163.2:c.4465_4466insGAGGCAAAGAATA	NP_001304092.1:p.Phe1489Ter
NM_001735.3:c.4447_4448insGAGGCAAAGAATA MANE Select	NP_001726.2:p.Phe1483Ter