HGVS | Genome Assembly |
---|---|
NC_000014.9:g.95535240_95535242del , CM000676.2:g.95535240_95535242del | GRCh38 |
NC_000014.8:g.96001577_96001579del , CM000676.1:g.96001577_96001579del | GRCh37 |
NC_000014.7:g.95071330_95071332del | NCBI36 |
NG_021217.1:g.5255_5257del | |
NG_033103.1:g.4635_4637del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331334.5:c.151_153del MANE Select | ENSP00000328570.4:p.Lys51del | |
ENST00000331334.4:c.151_153del | ENSP00000328570.4:p.Lys51del | |
ENST00000553672.1:n.301+1437_301+1439del | ||
NM_016417.2:c.151_153del | NP_057501.2:p.Lys51del | |
NM_016417.3:c.151_153del MANE Select | NP_057501.2:p.Lys51del |