HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225598_5225726del , CM000673.2:g.5225598_5225726del | GRCh38 |
NC_000011.9:g.5246828_5246956del , CM000673.1:g.5246828_5246956del | GRCh37 |
NC_000011.8:g.5203404_5203532del | NCBI36 |
NG_000007.3:g.71890_72018del | |
NG_059281.1:g.6346_6474del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.316_444del | ENSP00000494175.1:p.Leu106_Ter148del | |
ENST00000335295.4:c.316_444del MANE Select | ENSP00000333994.3:p.Leu106_Ter148del | |
ENST00000633227.1:c.*132_*260del | ENSP00000488004.1:n.*132_*260del | |
NM_000518.4:c.316_444del | NP_000509.1:p.Leu106_Ter148del | |
NM_000518.5:c.316_444del MANE Select | NP_000509.1:p.Leu106_Ter148del |