HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259160del , CM000676.2:g.24259160del | GRCh38 |
NC_000014.8:g.24728366del , CM000676.1:g.24728366del | GRCh37 |
NC_000014.7:g.23798206del | NCBI36 |
NG_007150.1:g.9007del | |
NG_007150.2:g.9007del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1074del MANE Select | ENSP00000206765.6:p.Ser358ArgfsTer26 | |
ENST00000206765.10:c.1074del | ENSP00000206765.6:p.Ser358ArgfsTer26 | |
ENST00000544573.5:c.-28-772del | ENSP00000439446.1:n.-28-772del | |
ENST00000559136.1:c.147del | ENSP00000453337.1:p.Ser49ArgfsTer26 | |
NM_000359.2:c.1074del | NP_000350.1:p.Ser358ArgfsTer26 | |
NM_000359.3:c.1074del MANE Select | NP_000350.1:p.Ser358ArgfsTer26 |