HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48380233_48380234del , CM000675.2:g.48380233_48380234del | GRCh38 |
NC_000013.10:g.48954369_48954370del , CM000675.1:g.48954369_48954370del | GRCh37 |
NC_000013.9:g.47852370_47852371del | NCBI36 |
NG_009009.1:g.81487_81488del , LRG_517:g.81487_81488del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1490_1491del MANE Select | ENSP00000267163.4:p.Thr497IlefsTer2 | |
ENST00000650461.1:c.1490_1491del | ENSP00000497193.1:p.Thr497IlefsTer2 | |
ENST00000267163.4:c.1490_1491del | ENSP00000267163.4:p.Thr497IlefsTer2 | |
NM_000321.2:c.1490_1491del , LRG_517t1:c.1490_1491del | NP_000312.2:p.Thr497IlefsTer2 | |
XM_011535171.1:c.1229_1230del | XP_011533473.1:p.Thr410IlefsTer2 | |
XM_011535171.2:c.1229_1230del | XP_011533473.1:p.Thr410IlefsTer2 | |
NM_000321.3:c.1490_1491del MANE Select | NP_000312.2:p.Thr497IlefsTer2 |