HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269991_31269993del , CM000668.2:g.31269991_31269993del | GRCh38 |
NC_000006.11:g.31237768_31237770del , CM000668.1:g.31237768_31237770del | GRCh37 |
NC_000006.10:g.31345747_31345749del | NCBI36 |
NG_029422.2:g.7139_7141del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.988_990del MANE Select | ENSP00000365402.5:p.Ala330del | |
ENST00000376228.9:c.988_990del | ENSP00000365402.5:p.Ala330del | |
ENST00000376237.8:c.*575_*577del | ENSP00000365412.4:n.*575_*577del | |
ENST00000383329.7:c.988_990del | ENSP00000372819.3:p.Ala330del | |
ENST00000470363.5:n.306_308del | ||
ENST00000487245.5:n.1347_1349del | ||
NM_002117.5:c.988_990del | NP_002108.4:p.Ala330del | |
NM_002117.6:c.988_990del MANE Select | NP_002108.4:p.Ala330del |