HGVS | Genome Assembly |
---|---|
NC_000002.12:g.47377034_47377035del , CM000664.2:g.47377034_47377035del | GRCh38 |
NC_000002.11:g.47604173_47604174del , CM000664.1:g.47604173_47604174del | GRCh37 |
NC_000002.10:g.47457677_47457678del | NCBI36 |
NG_012352.2:g.36872_36873del , LRG_215:g.36872_36873del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263735.9:c.512_513del MANE Select | ENSP00000263735.4:p.Thr171AsnfsTer16 | |
ENST00000263735.8:c.512_513del | ENSP00000263735.4:p.Thr171AsnfsTer16 | |
ENST00000405271.5:c.596_597del | ENSP00000385476.1:p.Thr199AsnfsTer16 | |
ENST00000456133.5:c.596_597del | ENSP00000410675.1:p.Thr199AsnfsTer16 | |
ENST00000490733.1:n.361_362del | ||
NM_002354.2:c.512_513del , LRG_215t1:c.512_513del | NP_002345.2:p.Thr171AsnfsTer16 | |
NM_002354.3:c.512_513del MANE Select | NP_002345.2:p.Thr171AsnfsTer16 |