HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571684_154571690del , CM000663.2:g.154571684_154571690del | GRCh38 |
NC_000001.10:g.154544160_154544166del , CM000663.1:g.154544160_154544166del | GRCh37 |
NC_000001.9:g.152810784_152810790del | NCBI36 |
NG_008027.1:g.8904_8910del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.861_867del MANE Select | ENSP00000357461.3:p.Thr290SerfsTer? | |
ENST00000636034.1:c.861_867del | ENSP00000489703.1:p.Thr290SerfsTer? | |
ENST00000637900.1:c.867_873del | ENSP00000490474.1:p.Thr292SerfsTer? | |
ENST00000368476.3:c.861_867del | ENSP00000357461.3:p.Thr290SerfsTer? | |
NM_000748.2:c.861_867del | NP_000739.1:p.Thr290SerfsTer? | |
XM_017000180.2:c.351_357del | XP_016855669.1:p.Thr120SerfsTer? | |
XR_001736952.2:n.1113_1119del | ||
NM_000748.3:c.861_867del MANE Select | NP_000739.1:p.Thr290SerfsTer? |