HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153736202_153736211del , CM000685.2:g.153736202_153736211del | GRCh38 |
NC_000023.10:g.153001656_153001665del , CM000685.1:g.153001656_153001665del | GRCh37 |
NC_000023.9:g.152654850_152654859del | NCBI36 |
NG_009022.2:g.16335_16344del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1172_1181del MANE Select | ENSP00000218104.3:p.Leu391ArgfsTer16 | |
ENST00000218104.5:c.1172_1181del | ENSP00000218104.3:p.Leu391ArgfsTer16 | |
ENST00000443684.2:n.175_184del | ||
NM_000033.3:c.1172_1181del | NP_000024.2:p.Leu391ArgfsTer16 | |
XR_938507.1:n.1588_1597del | ||
XR_938507.2:n.1588_1597del | ||
NM_000033.4:c.1172_1181del MANE Select | NP_000024.2:p.Leu391ArgfsTer16 |