HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215867133_215867140del , CM000663.2:g.215867133_215867140del | GRCh38 |
NC_000001.10:g.216040475_216040482del , CM000663.1:g.216040475_216040482del | GRCh37 |
NC_000001.9:g.214107098_214107105del | NCBI36 |
NG_009497.1:g.561257_561264del | |
NG_009497.2:g.561309_561316del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.8712_8719del MANE Select | ENSP00000305941.3:p.His2905CysfsTer? | |
ENST00000674083.1:c.8712_8719del | ENSP00000501296.1:p.His2905CysfsTer? | |
ENST00000307340.7:c.8712_8719del | ENSP00000305941.3:p.His2905CysfsTer? | |
NM_206933.2:c.8712_8719del | NP_996816.2:p.His2905CysfsTer? | |
NM_206933.3:c.8712_8719del | NP_996816.2:p.His2905CysfsTer? | |
NM_206933.4:c.8712_8719del MANE Select | NP_996816.3:p.His2905CysfsTer? |