HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37727932_37727933insTTGCC , CM000685.2:g.37727932_37727933insTTGCC | GRCh38 |
NC_000023.10:g.37587185_37587186insTTGCC , CM000685.1:g.37587185_37587186insTTGCC | GRCh37 |
NC_000023.9:g.37472124_37472125insTTGCC | NCBI36 |
NG_007473.1:g.47073_47074insTTGCC | |
NG_007473.3:g.47053_47054insTTGCC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378616.5:c.805_806insTTGCC MANE Select | ENSP00000367879.3:p.Lys269IlefsTer17 | |
ENST00000378616.3:c.805_806insTTGCC | ENSP00000367879.3:p.Lys269IlefsTer17 | |
ENST00000465127.1:c.171+301932_171+301933insTTGCC | ENSP00000417050.1:n.171+301932_171+301933insTTGCC | |
NM_021083.2:c.805_806insTTGCC | NP_066569.1:p.Lys269IlefsTer17 | |
NM_021083.4:c.805_806insTTGCC MANE Select | NP_066569.1:p.Lys269IlefsTer17 |