HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740686del , CM000666.2:g.67740686del | GRCh38 |
NC_000004.11:g.68606404del , CM000666.1:g.68606404del | GRCh37 |
NC_000004.10:g.68288999del | NCBI36 |
NG_009293.1:g.20401del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.781del MANE Select | ENSP00000226413.5:p.Ala261HisfsTer3 | |
ENST00000226413.4:c.781del | ENSP00000226413.4:p.Ala261HisfsTer3 | |
ENST00000420975.2:c.653del | ENSP00000397561.2:p.Ser218ThrfsTer? | |
NM_000406.2:c.781del | NP_000397.1:p.Ala261HisfsTer3 | |
NM_001012763.1:c.653del | NP_001012781.1:p.Ser218ThrfsTer? | |
NM_000406.3:c.781del MANE Select | NP_000397.1:p.Ala261HisfsTer3 | |
NM_001012763.2:c.653del | NP_001012781.1:p.Ser218ThrfsTer? |