HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3082917_3082918insGGGC , CM000682.2:g.3082917_3082918insGGGC | GRCh38 |
NC_000020.10:g.3063563_3063564insGGGC , CM000682.1:g.3063563_3063564insGGGC | GRCh37 |
NC_000020.9:g.3011563_3011564insGGGC | NCBI36 |
NG_008663.1:g.6807_6808insGCCC , LRG_715:g.6807_6808insGCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.322+59_322+60insGCCC MANE Select | ENSP00000369647.3:n.322+59_322+60insGCCC | |
NM_000490.4:c.322+59_322+60insGCCC , LRG_715t1:c.322+59_322+60insGCCC | NP_000481.2:n.322+59_322+60insGCCC | |
XM_011529267.1:c.322+59_322+60insGCCC | XP_011527569.1:n.322+59_322+60insGCCC | |
XM_011529267.2:c.322+59_322+60insGCCC | XP_011527569.1:n.322+59_322+60insGCCC | |
NM_000490.5:c.322+59_322+60insGCCC MANE Select | NP_000481.2:n.322+59_322+60insGCCC |