HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271143del , CM000668.2:g.31271143del | GRCh38 |
NC_000006.11:g.31238920del , CM000668.1:g.31238920del | GRCh37 |
NC_000006.10:g.31346899del | NCBI36 |
NG_029422.2:g.5990del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.550del MANE Select | ENSP00000365402.5:p.Leu184TrpfsTer30 | |
ENST00000376228.9:c.550del | ENSP00000365402.5:p.Leu184TrpfsTer30 | |
ENST00000376237.8:c.*137del | ENSP00000365412.4:n.*137del | |
ENST00000383329.7:c.550del | ENSP00000372819.3:p.Leu184TrpfsTer30 | |
ENST00000415537.1:c.548del | ||
ENST00000484378.1:n.819del | ||
ENST00000487245.5:n.909del | ||
ENST00000495835.1:n.739del | ||
NM_002117.5:c.550del | NP_002108.4:p.Leu184TrpfsTer30 | |
NM_002117.6:c.550del MANE Select | NP_002108.4:p.Leu184TrpfsTer30 |