HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24302193_24302194del , CM000668.2:g.24302193_24302194del | GRCh38 |
NC_000006.11:g.24302421_24302422del , CM000668.1:g.24302421_24302422del | GRCh37 |
NC_000006.10:g.24410400_24410401del | NCBI36 |
NG_012829.1:g.60861_60862del | |
NG_012829.2:g.86101_86102del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.349-148_349-147del MANE Select | ENSP00000367715.3:n.349-148_349-147del | |
ENST00000378454.7:c.349-148_349-147del | ENSP00000367715.3:n.349-148_349-147del | |
NM_001195610.1:c.349-148_349-147del | NP_001182539.1:n.349-148_349-147del | |
NM_016356.4:c.349-148_349-147del | NP_057440.2:n.349-148_349-147del | |
NM_016356.5:c.349-148_349-147del MANE Select | NP_057440.2:n.349-148_349-147del | |
NM_001195610.2:c.349-148_349-147del | NP_001182539.1:n.349-148_349-147del |