HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951828_19951829insAAAT , CM000670.2:g.19951828_19951829insAAAT | GRCh38 |
NC_000008.10:g.19809339_19809340insAAAT , CM000670.1:g.19809339_19809340insAAAT | GRCh37 |
NC_000008.9:g.19853619_19853620insAAAT | NCBI36 |
NG_008855.1:g.17758_17759insAAAT | |
NG_008855.2:g.55112_55113insAAAT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.309_310insAAAT MANE Select | ENSP00000497642.1:p.Pro104LysfsTer? | |
ENST00000311322.8:c.309_310insAAAT | ENSP00000309757.6:p.Pro104LysfsTer? | |
ENST00000520959.5:c.81_82insAAAT | ENSP00000428496.1:p.Pro28LysfsTer? | |
ENST00000522701.5:c.309_310insAAAT | ENSP00000428557.1:p.Pro104LysfsTer? | |
ENST00000524029.5:c.309_310insAAAT | ENSP00000428237.1:p.Pro104LysfsTer? | |
NM_000237.2:c.309_310insAAAT | NP_000228.1:p.Pro104LysfsTer? | |
NM_000237.3:c.309_310insAAAT MANE Select | NP_000228.1:p.Pro104LysfsTer? |