HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34255394del , CM000679.2:g.34255394del | GRCh38 |
NC_000017.10:g.32582413del , CM000679.1:g.32582413del | GRCh37 |
NC_000017.9:g.29606526del | NCBI36 |
NG_012123.1:g.5118del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.45del | ENSP00000462156.1:p.Thr16ProfsTer? | |
ENST00000624362.2:n.110del | ||
ENST00000225831.4:c.45del MANE Select | ENSP00000225831.4:p.Thr16ProfsTer? | |
ENST00000580907.5:c.45del | ENSP00000462156.1:p.Thr16ProfsTer? | |
ENST00000624362.1:n.177del | ||
NM_002982.3:c.45del | NP_002973.1:p.Thr16ProfsTer? | |
NM_002982.4:c.45del MANE Select | NP_002973.1:p.Thr16ProfsTer? |