HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43169472_43169473insCCAGGGGAA , CM000683.2:g.43169472_43169473insCCAGGGGAA | GRCh38 |
NG_009823.1:g.5442_5443insCCAGGGGAA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291554.6:c.189+184_189+185insCCAGGGGAA MANE Select | ENSP00000291554.2:n.189+184_189+185insCCAGGGGAA | |
ENST00000482775.1:n.203-61_203-60insCCAGGGGAA | ||
NM_000394.3:c.189+184_189+185insCCAGGGGAA | NP_000385.1:n.189+184_189+185insCCAGGGGAA | |
XR_001755073.1:n.647+1564_647+1565insTTCCCCTGG | ||
NM_000394.4:c.189+184_189+185insCCAGGGGAA MANE Select | NP_000385.1:n.189+184_189+185insCCAGGGGAA |