HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122472361_122472364del , CM000672.2:g.122472361_122472364del | GRCh38 |
NC_000010.10:g.124231877_124231880del , CM000672.1:g.124231877_124231880del | GRCh37 |
NC_000010.9:g.124221867_124221870del | NCBI36 |
NG_011554.1:g.15837_15840del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.472+10237_472+10240del MANE Select | ENSP00000357980.3:n.472+10237_472+10240del | |
ENST00000648167.1:c.154+13652_154+13655del | ENSP00000498033.1:n.154+13652_154+13655del | |
ENST00000368984.7:c.472+10237_472+10240del | ENSP00000357980.3:n.472+10237_472+10240del | |
NM_002775.4:c.472+10237_472+10240del | NP_002766.1:n.472+10237_472+10240del | |
NM_002775.5:c.472+10237_472+10240del MANE Select | NP_002766.1:n.472+10237_472+10240del |