HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44289710_44289711del , CM000683.2:g.44289710_44289711del | GRCh38 |
NC_000021.8:g.45709593_45709594del , CM000683.1:g.45709593_45709594del | GRCh37 |
NC_000021.7:g.44534021_44534022del | NCBI36 |
NG_009556.1:g.8831_8832del , LRG_18:g.8831_8832del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291582.6:c.706_707del MANE Select | ENSP00000291582.5:p.Phe236ArgfsTer? | |
ENST00000291582.5:c.706_707del | ENSP00000291582.5:p.Phe236ArgfsTer? | |
ENST00000527919.5:n.1439_1440del | ||
ENST00000530812.5:n.2456_2457del | ||
NM_000383.3:c.706_707del | NP_000374.1:p.Phe236ArgfsTer? | |
XM_011529551.1:c.706_707del | XP_011527853.1:p.Phe236ArgfsTer? | |
NM_000383.4:c.706_707del MANE Select | NP_000374.1:p.Phe236ArgfsTer? |