HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153736204_153736208del , CM000685.2:g.153736204_153736208del | GRCh38 |
NC_000023.10:g.153001658_153001662del , CM000685.1:g.153001658_153001662del | GRCh37 |
NC_000023.9:g.152654852_152654856del | NCBI36 |
NG_009022.2:g.16337_16341del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1174_1178del MANE Select | ENSP00000218104.3:p.Leu392SerfsTer7 | |
ENST00000218104.5:c.1174_1178del | ENSP00000218104.3:p.Leu392SerfsTer7 | |
ENST00000443684.2:n.177_181del | ||
NM_000033.3:c.1174_1178del | NP_000024.2:p.Leu392SerfsTer7 | |
XR_938507.1:n.1590_1594del | ||
XR_938507.2:n.1590_1594del | ||
NM_000033.4:c.1174_1178del MANE Select | NP_000024.2:p.Leu392SerfsTer7 |