HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30221681_30221682del , CM000679.2:g.30221681_30221682del | GRCh38 |
NC_000017.10:g.28548699_28548700del , CM000679.1:g.28548699_28548700del | GRCh37 |
NC_000017.9:g.25572825_25572826del | NCBI36 |
NG_011747.2:g.19255_19256del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650711.1:c.277_278del MANE Select | ENSP00000498537.1:p.Ile93TrpfsTer? | |
ENST00000261707.7:c.277_278del | ENSP00000261707.3:p.Ile93TrpfsTer? | |
ENST00000394821.2:c.277_278del | ENSP00000378298.2:p.Ile93TrpfsTer? | |
ENST00000401766.6:c.277_278del | ENSP00000385822.2:p.Ile93TrpfsTer? | |
NM_001045.5:c.277_278del | NP_001036.1:p.Ile93TrpfsTer? | |
NM_001045.6:c.277_278del MANE Select | NP_001036.1:p.Ile93TrpfsTer? |