HGVS | Genome Assembly |
---|---|
NC_000015.10:g.89776758_89776768dup , CM000677.2:g.89776758_89776768dup | GRCh38 |
NC_000015.9:g.90319989_90319999dup , CM000677.1:g.90319989_90319999dup | GRCh37 |
NC_000015.8:g.88120993_88121003dup | NCBI36 |
NG_008608.1:g.5401_5411dup | |
NG_008608.2:g.21168_21178dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000341735.5:c.401_411dup MANE Select | ENSP00000342392.3:p.Val138ThrfsTer? | |
ENST00000341735.3:c.401_411dup | ENSP00000342392.3:p.Val138ThrfsTer? | |
ENST00000558723.1:n.39-1307_39-1297dup | ||
ENST00000560219.2:c.31-1307_31-1297dup | ENSP00000452998.1:n.31-1307_31-1297dup | |
NM_001039958.1:c.401_411dup | NP_001035047.1:p.Val138ThrfsTer? | |
NM_001039958.2:c.401_411dup MANE Select | NP_001035047.1:p.Val138ThrfsTer? |