HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5045079_5045080del , CM000674.2:g.5045079_5045080del | GRCh38 |
NC_000012.11:g.5154245_5154246del , CM000674.1:g.5154245_5154246del | GRCh37 |
NC_000012.10:g.5024506_5024507del | NCBI36 |
NG_012198.1:g.6161_6162del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.932_933del MANE Select | ENSP00000252321.3:p.Thr311SerfsTer? | |
ENST00000252321.4:c.932_933del | ENSP00000252321.3:p.Thr311SerfsTer? | |
NM_002234.3:c.932_933del | NP_002225.2:p.Thr311SerfsTer? | |
NM_002234.4:c.932_933del MANE Select | NP_002225.2:p.Thr311SerfsTer? |