HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18785977_18785979del , CM000681.2:g.18785977_18785979del | GRCh38 |
NC_000019.9:g.18896787_18896789del , CM000681.1:g.18896787_18896789del | GRCh37 |
NC_000019.8:g.18757787_18757789del | NCBI36 |
NG_007070.1:g.10330_10332del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1479_1481del MANE Select | ENSP00000222271.2:p.Glu493del | |
ENST00000222271.6:c.1479_1481del | ENSP00000222271.2:p.Glu493del | |
ENST00000425807.1:c.1320_1322del | ENSP00000403792.1:p.Glu440del | |
ENST00000542601.6:c.1380_1382del | ENSP00000439156.2:p.Glu460del | |
NM_000095.2:c.1479_1481del | NP_000086.2:p.Glu493del | |
NM_000095.3:c.1479_1481del MANE Select | NP_000086.2:p.Glu493del |