HGVS | Genome Assembly |
---|---|
NC_000023.11:g.64192350del , CM000685.2:g.64192350del | GRCh38 |
NC_000023.10:g.63412230del , CM000685.1:g.63412230del | GRCh37 |
NC_000023.9:g.63328955del | NCBI36 |
NG_021345.1:g.18397del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374869.8:c.939del MANE Select | ENSP00000364003.4:p.Phe313LeufsTer4 | |
ENST00000330258.3:c.939del | ENSP00000329117.3:p.Phe313LeufsTer4 | |
ENST00000374869.7:c.939del | ENSP00000364003.3:p.Phe313LeufsTer4 | |
NM_152424.3:c.939del | NP_689637.3:p.Phe313LeufsTer4 | |
XM_011530858.1:c.939del | XP_011529160.1:p.Phe313LeufsTer4 | |
NM_152424.4:c.939del MANE Select | NP_689637.3:p.Phe313LeufsTer4 |