HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3082895_3082910del , CM000682.2:g.3082895_3082910del | GRCh38 |
NC_000020.10:g.3063541_3063556del , CM000682.1:g.3063541_3063556del | GRCh37 |
NC_000020.9:g.3011541_3011556del | NCBI36 |
NG_008663.1:g.6815_6830del , LRG_715:g.6815_6830del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.322+67_322+82del MANE Select | ENSP00000369647.3:n.322+67_322+82del | |
NM_000490.4:c.322+67_322+82del , LRG_715t1:c.322+67_322+82del | NP_000481.2:n.322+67_322+82del | |
XM_011529267.1:c.322+67_322+82del | XP_011527569.1:n.322+67_322+82del | |
XM_011529267.2:c.322+67_322+82del | XP_011527569.1:n.322+67_322+82del | |
NM_000490.5:c.322+67_322+82del MANE Select | NP_000481.2:n.322+67_322+82del |