HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89919746_89919758del , CM000678.2:g.89919746_89919758del | GRCh38 |
NC_000016.9:g.89986154_89986166del , CM000678.1:g.89986154_89986166del | GRCh37 |
NC_000016.8:g.88513655_88513667del | NCBI36 |
NG_012026.1:g.6868_6880del | |
NG_027810.1:g.2738_2750del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000555147.2:c.488_500del MANE Select | ENSP00000451605.1:p.Arg163ProfsTer? | |
ENST00000639847.1:c.488_500del | ENSP00000492011.1:p.Arg163ProfsTer? | |
ENST00000555147.1:c.488_500del | ENSP00000451605.1:p.Arg163ProfsTer? | |
ENST00000555427.1:c.488_500del | ENSP00000451760.1:p.Arg163ProfsTer? | |
ENST00000556922.1:c.488_500del | ENSP00000451560.1:p.Arg163ProfsTer? | |
NM_002386.3:c.488_500del | NP_002377.4:p.Arg163ProfsTer? | |
NM_002386.4:c.488_500del MANE Select | NP_002377.4:p.Arg163ProfsTer? |