HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612664del , CM000679.2:g.41612664del | GRCh38 |
NC_000017.10:g.39768916del , CM000679.1:g.39768916del | GRCh37 |
NC_000017.9:g.37022442del | NCBI36 |
NG_008301.1:g.5164del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.25del MANE Select | ENSP00000301653.3:p.Thr9ProfsTer6 | |
ENST00000301653.8:c.25del | ENSP00000301653.3:p.Thr9ProfsTer6 | |
ENST00000588319.1:n.102del | ||
ENST00000590990.1:c.25del | ENSP00000467105.1:p.Thr9ProfsTer6 | |
ENST00000593067.1:c.-313+126del | ENSP00000467124.1:n.-313+126del | |
NM_005557.3:c.25del | NP_005548.2:p.Thr9ProfsTer6 | |
NM_005557.4:c.25del MANE Select | NP_005548.2:p.Thr9ProfsTer6 |