HGVS | Genome Assembly |
---|---|
NC_000016.10:g.177096del , CM000678.2:g.177096del | GRCh38 |
NC_000016.9:g.227095del , CM000678.1:g.227095del | GRCh37 |
NC_000016.8:g.167095del | NCBI36 |
NG_000006.1:g.37959del | |
NG_059186.1:g.5446del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320868.9:c.263del MANE Select | ENSP00000322421.5:p.His88ProfsTer15 | |
ENST00000397797.1:c.167del | ENSP00000380899.1:p.His56ProfsTer15 | |
ENST00000472694.1:n.399del | ||
ENST00000487791.1:n.232del | ||
NM_000558.4:c.263del | NP_000549.1:p.His88ProfsTer15 | |
NM_000558.5:c.263del MANE Select | NP_000549.1:p.His88ProfsTer15 |