HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169529740del , CM000663.2:g.169529740del | GRCh38 |
NC_000001.10:g.169498978del , CM000663.1:g.169498978del | GRCh37 |
NC_000001.9:g.167765602del | NCBI36 |
NG_011806.1:g.61793del , LRG_553:g.61793del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.5288del MANE Select | ENSP00000356771.3:p.Pro1763LeufsTer4 | |
ENST00000367796.3:c.5303del | ENSP00000356770.3:p.Pro1768LeufsTer4 | |
ENST00000367797.7:c.5288del | ENSP00000356771.3:p.Pro1763LeufsTer4 | |
NM_000130.4:c.5288del , LRG_553t1:c.5288del | NP_000121.2:p.Pro1763LeufsTer4 | |
XM_017000660.2:c.4877del | XP_016856149.1:p.Pro1626LeufsTer4 | |
NM_000130.5:c.5288del MANE Select | NP_000121.2:p.Pro1763LeufsTer4 |