HGVS | Genome Assembly |
---|---|
NC_000016.10:g.84031904del , CM000678.2:g.84031904del | GRCh38 |
NC_000016.9:g.84065509del , CM000678.1:g.84065509del | GRCh37 |
NC_000016.8:g.82623010del | NCBI36 |
NG_034136.1:g.15257del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299709.8:c.598del MANE Select | ENSP00000299709.3:p.Gln200ArgfsTer11 | |
ENST00000299709.7:c.598del | ENSP00000299709.3:p.Gln200ArgfsTer11 | |
ENST00000568178.1:c.598del | ENSP00000457737.1:p.Gln200ArgfsTer11 | |
NM_001080442.2:c.598del | NP_001073911.1:p.Gln200ArgfsTer11 | |
XM_011522872.1:c.598del | XP_011521174.1:p.Gln200ArgfsTer11 | |
XM_017022946.1:c.598del | XP_016878435.1:p.Gln200ArgfsTer11 | |
NM_001080442.3:c.598del MANE Select | NP_001073911.1:p.Gln200ArgfsTer11 |