HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89919928_89919949del , CM000678.2:g.89919928_89919949del | GRCh38 |
NC_000016.9:g.89986336_89986357del , CM000678.1:g.89986336_89986357del | GRCh37 |
NC_000016.8:g.88513837_88513858del | NCBI36 |
NG_012026.1:g.7050_7071del | |
NG_027810.1:g.2920_2941del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555147.2:c.670_691del MANE Select | ENSP00000451605.1:p.Leu224SerfsTer? | |
ENST00000639847.1:c.670_691del | ENSP00000492011.1:p.Leu224SerfsTer? | |
ENST00000555147.1:c.670_691del | ENSP00000451605.1:p.Leu224SerfsTer? | |
ENST00000555427.1:c.670_691del | ENSP00000451760.1:p.Leu224SerfsTer? | |
ENST00000556922.1:c.670_691del | ENSP00000451560.1:p.Leu224SerfsTer? | |
NM_002386.3:c.670_691del | NP_002377.4:p.Leu224SerfsTer? | |
NM_002386.4:c.670_691del MANE Select | NP_002377.4:p.Leu224SerfsTer? |