HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827619del , CM000667.2:g.148827619del | GRCh38 |
NC_000005.9:g.148207182del , CM000667.1:g.148207182del | GRCh37 |
NC_000005.8:g.148187375del | NCBI36 |
NG_016421.1:g.6027del | |
NG_016421.2:g.6027del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.788del MANE Select | ENSP00000305372.4:p.Lys263SerfsTer4 | |
ENST00000305988.5:c.788del | ENSP00000305372.4:p.Lys263SerfsTer4 | |
NM_000024.5:c.788del | NP_000015.1:p.Lys263SerfsTer4 | |
NM_000024.6:c.788del MANE Select | NP_000015.2:p.Lys263SerfsTer4 |