HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74421875_74421878del , CM000685.2:g.74421875_74421878del | GRCh38 |
NC_000023.10:g.73641710_73641713del , CM000685.1:g.73641710_73641713del | GRCh37 |
NC_000023.9:g.73558435_73558438del | NCBI36 |
NG_011641.1:g.5626_5629del | |
NG_011641.2:g.5626_5629del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.238_241del MANE Select | ENSP00000465734.1:p.Thr80LeufsTer3 | |
ENST00000587091.5:c.238_241del | ENSP00000465734.1:p.Thr80LeufsTer3 | |
NM_006517.4:c.238_241del | NP_006508.2:p.Thr80LeufsTer3 | |
XM_005262294.1:c.238_241del | XP_005262351.1:p.Thr80LeufsTer3 | |
XM_011531015.1:c.238_241del | XP_011529317.1:p.Thr80LeufsTer3 | |
NM_006517.5:c.238_241del MANE Select | NP_006508.2:p.Thr80LeufsTer3 |