HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48411045del , CM000677.2:g.48411045del | GRCh38 |
NC_000015.9:g.48703242del , CM000677.1:g.48703242del | GRCh37 |
NC_000015.8:g.46490534del | NCBI36 |
NG_008805.2:g.239744del , LRG_778:g.239744del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1369del | ENSP00000453958.2:n.*1369del | |
ENST00000682158.1:n.1942del | ||
ENST00000682170.1:n.2742del | ||
ENST00000682767.1:n.1858del | ||
ENST00000316623.10:c.8561del MANE Select | ENSP00000325527.5:p.Leu2854ProfsTer9 | |
ENST00000316623.9:c.8561del | ENSP00000325527.5:p.Leu2854ProfsTer9 | |
ENST00000559133.5:c.3930del | ||
NM_000138.4:c.8561del , LRG_778t1:c.8561del | NP_000129.3:p.Leu2854ProfsTer9 | |
NM_000138.5:c.8561del MANE Select | NP_000129.3:p.Leu2854ProfsTer9 |