HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68669940_68669941insGC , CM000666.2:g.68669940_68669941insGC | GRCh38 |
NC_000004.11:g.69535658_69535659insGC , CM000666.1:g.69535658_69535659insGC | GRCh37 |
NC_000004.10:g.69218253_69218254insGC | NCBI36 |
NG_052676.1:g.5836_5837insGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.678_679insGC MANE Select | ENSP00000341045.5:p.Ile227AlafsTer5 | |
ENST00000338206.5:c.678_679insGC | ENSP00000341045.5:p.Ile227AlafsTer5 | |
ENST00000616841.4:c.678_679insGC | ENSP00000482004.1:p.Ile227AlafsTer5 | |
NM_001076.3:c.678_679insGC | NP_001067.2:p.Ile227AlafsTer5 | |
NM_001076.4:c.678_679insGC MANE Select | NP_001067.2:p.Ile227AlafsTer5 |