HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94981296_94981297insAGTAAAAACTGA , CM000672.2:g.94981296_94981297insAGTAAAAACTGA | GRCh38 |
NC_000010.10:g.96741053_96741054insAGTAAAAACTGA , CM000672.1:g.96741053_96741054insAGTAAAAACTGA | GRCh37 |
NC_000010.9:g.96731043_96731044insAGTAAAAACTGA | NCBI36 |
NG_008385.1:g.47639_47640insAGTAAAAACTGA | |
NG_008385.2:g.48139_48140insAGTAAAAACTGA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.1075_1076insAGTAAAAACTGA MANE Select | ENSP00000260682.6:p.Ile359LysfsTer2 | |
ENST00000643112.1:c.*84_*85insAGTAAAAACTGA | ENSP00000496202.1:n.*84_*85insAGTAAAAACTG... | |
ENST00000260682.6:c.1075_1076insAGTAAAAACTGA | ENSP00000260682.6:p.Ile359LysfsTer2 | |
NM_000771.3:c.1075_1076insAGTAAAAACTGA | NP_000762.2:p.Ile359LysfsTer2 | |
NM_000771.4:c.1075_1076insAGTAAAAACTGA MANE Select | NP_000762.2:p.Ile359LysfsTer2 |