HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48520689del , CM000677.2:g.48520689del | GRCh38 |
NC_000015.9:g.48812886del , CM000677.1:g.48812886del | GRCh37 |
NC_000015.8:g.46600178del | NCBI36 |
NG_008805.2:g.130100del , LRG_778:g.130100del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.1117del | ENSP00000453958.2:p.Ala373ProfsTer22 | |
ENST00000674301.2:c.1117del | ENSP00000501333.2:p.Ala373ProfsTer22 | |
ENST00000316623.10:c.1117del MANE Select | ENSP00000325527.5:p.Ala373ProfsTer22 | |
ENST00000316623.9:c.1117del | ENSP00000325527.5:p.Ala373ProfsTer22 | |
ENST00000537463.6:c.636+17022del | ENSP00000440294.2:n.636+17022del | |
NM_000138.4:c.1117del , LRG_778t1:c.1117del | NP_000129.3:p.Ala373ProfsTer22 | |
NM_000138.5:c.1117del MANE Select | NP_000129.3:p.Ala373ProfsTer22 |