HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123966del , CM000679.2:g.72123966del | GRCh38 |
NC_000017.10:g.70120107del , CM000679.1:g.70120107del | GRCh37 |
NC_000017.9:g.67631702del | NCBI36 |
NG_012490.1:g.7947del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.1109del MANE Select | ENSP00000245479.2:p.Pro370ArgfsTer13 | |
ENST00000245479.2:c.1109del | ENSP00000245479.2:p.Pro370ArgfsTer13 | |
NM_000346.3:c.1109del | NP_000337.1:p.Pro370ArgfsTer13 | |
NM_000346.4:c.1109del MANE Select | NP_000337.1:p.Pro370ArgfsTer13 |