HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169552622del , CM000663.2:g.169552622del | GRCh38 |
NC_000001.10:g.169521860del , CM000663.1:g.169521860del | GRCh37 |
NC_000001.9:g.167788484del | NCBI36 |
NG_011806.1:g.38912del , LRG_553:g.38912del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.1233del MANE Select | ENSP00000356771.3:p.Asn412IlefsTer2 | |
ENST00000367796.3:c.1233del | ENSP00000356770.3:p.Asn412IlefsTer2 | |
ENST00000367797.7:c.1233del | ENSP00000356771.3:p.Asn412IlefsTer2 | |
NM_000130.4:c.1233del , LRG_553t1:c.1233del | NP_000121.2:p.Asn412IlefsTer2 | |
XM_017000660.2:c.822del | XP_016856149.1:p.Asn275IlefsTer2 | |
NM_000130.5:c.1233del MANE Select | NP_000121.2:p.Asn412IlefsTer2 |