HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48380231del , CM000675.2:g.48380231del | GRCh38 |
NC_000013.10:g.48954367del , CM000675.1:g.48954367del | GRCh37 |
NC_000013.9:g.47852368del | NCBI36 |
NG_009009.1:g.81485del , LRG_517:g.81485del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1488del MANE Select | ENSP00000267163.4:p.Thr497HisfsTer22 | |
ENST00000650461.1:c.1488del | ENSP00000497193.1:p.Thr497HisfsTer22 | |
ENST00000267163.4:c.1488del | ENSP00000267163.4:p.Thr497HisfsTer22 | |
NM_000321.2:c.1488del , LRG_517t1:c.1488del | NP_000312.2:p.Thr497HisfsTer22 | |
XM_011535171.1:c.1227del | XP_011533473.1:p.Thr410HisfsTer22 | |
XM_011535171.2:c.1227del | XP_011533473.1:p.Thr410HisfsTer22 | |
NM_000321.3:c.1488del MANE Select | NP_000312.2:p.Thr497HisfsTer22 |