HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24259101_24259104dup , CM000676.2:g.24259101_24259104dup | GRCh38 |
NC_000014.8:g.24728307_24728310dup , CM000676.1:g.24728307_24728310dup | GRCh37 |
NC_000014.7:g.23798147_23798150dup | NCBI36 |
NG_007150.1:g.9064_9067dup | |
NG_007150.2:g.9064_9067dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1131_1134dup MANE Select | ENSP00000206765.6:p.Val379LeufsTer? | |
ENST00000206765.10:c.1131_1134dup | ENSP00000206765.6:p.Val379LeufsTer? | |
ENST00000544573.5:c.-28-715_-28-712dup | ENSP00000439446.1:n.-28-715_-28-712dup | |
ENST00000559136.1:c.204_207dup | ENSP00000453337.1:p.Val70LeufsTer? | |
NM_000359.2:c.1131_1134dup | NP_000350.1:p.Val379LeufsTer? | |
NM_000359.3:c.1131_1134dup MANE Select | NP_000350.1:p.Val379LeufsTer? |