Canonical Allele Identifier: CA2502260008
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962241_120962242insT , CM000671.2:g.120962241_120962242insT GRCh38
NC_000009.11:g.123724519_123724520insT , CM000671.1:g.123724519_123724520insT GRCh37
NC_000009.10:g.122764340_122764341insT NCBI36
NG_007364.1:g.93035_93036insA , LRG_28:g.93035_93036insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1538+429_1538+430insA
ENST00000696279.1:c.4824+429_4824+430insA
ENST00000696280.1:n.4593+429_4593+430insA
ENST00000696281.1:c.4522+429_4522+430insA ENSP00000512521.1:n.4522+429_4522+430insA
ENST00000697921.1:n.3382+429_3382+430insA
ENST00000697922.1:c.*4494+429_*4494+430insA ENSP00000513478.1:n.*4494+429_*4494+430insA
ENST00000697923.1:n.4949+429_4949+430insA
ENST00000223642.3:c.4504+429_4504+430insA MANE Select ENSP00000223642.1:n.4504+429_4504+430insA
ENST00000223642.2:c.4504+429_4504+430insA ENSP00000223642.1:n.4504+429_4504+430insA
ENST00000480188.1:n.37+429_37+430insA
NM_001735.2:c.4504+429_4504+430insA , LRG_28t1:c.4504+429_4504+430insA NP_001726.2:n.4504+429_4504+430insA
XM_011518980.1:c.4519+429_4519+430insA XP_011517282.1:n.4519+429_4519+430insA
NM_001317163.1:c.4522+429_4522+430insA NP_001304092.1:n.4522+429_4522+430insA
NM_001317163.2:c.4522+429_4522+430insA NP_001304092.1:n.4522+429_4522+430insA
NM_001735.3:c.4504+429_4504+430insA MANE Select NP_001726.2:n.4504+429_4504+430insA