HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67754331_67754332del , CM000666.2:g.67754331_67754332del | GRCh38 |
NC_000004.11:g.68620049_68620050del , CM000666.1:g.68620049_68620050del | GRCh37 |
NC_000004.10:g.68302644_68302645del | NCBI36 |
NG_009293.1:g.6755_6756del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.4_5del MANE Select | ENSP00000226413.5:p.Ala2LysfsTer6 | |
ENST00000226413.4:c.4_5del | ENSP00000226413.4:p.Ala2LysfsTer6 | |
ENST00000420975.2:c.4_5del | ENSP00000397561.2:p.Ala2LysfsTer6 | |
NM_000406.2:c.4_5del | NP_000397.1:p.Ala2LysfsTer6 | |
NM_001012763.1:c.4_5del | NP_001012781.1:p.Ala2LysfsTer6 | |
NM_000406.3:c.4_5del MANE Select | NP_000397.1:p.Ala2LysfsTer6 | |
NM_001012763.2:c.4_5del | NP_001012781.1:p.Ala2LysfsTer6 |