HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259169_24259172del , CM000676.2:g.24259169_24259172del | GRCh38 |
NC_000014.8:g.24728375_24728378del , CM000676.1:g.24728375_24728378del | GRCh37 |
NC_000014.7:g.23798215_23798218del | NCBI36 |
NG_007150.1:g.9000_9003del | |
NG_007150.2:g.9000_9003del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1067_1070del MANE Select | ENSP00000206765.6:p.Val356AlafsTer27 | |
ENST00000206765.10:c.1067_1070del | ENSP00000206765.6:p.Val356AlafsTer27 | |
ENST00000544573.5:c.-28-779_-28-776del | ENSP00000439446.1:n.-28-779_-28-776del | |
ENST00000559136.1:c.140_143del | ENSP00000453337.1:p.Val47AlafsTer27 | |
NM_000359.2:c.1067_1070del | NP_000350.1:p.Val356AlafsTer27 | |
NM_000359.3:c.1067_1070del MANE Select | NP_000350.1:p.Val356AlafsTer27 |