HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45767006del , CM000681.2:g.45767006del | GRCh38 |
NC_000019.9:g.46270264del , CM000681.1:g.46270264del | GRCh37 |
NC_000019.8:g.50962104del | NCBI36 |
NG_012745.1:g.7235del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.954del MANE Select | ENSP00000316842.4:p.Ser319ProfsTer5 | |
ENST00000317578.6:c.954del | ENSP00000316842.4:p.Ser319ProfsTer5 | |
ENST00000560160.1:c.587-894del | ||
ENST00000560168.1:c.*142del | ENSP00000453189.2:n.*142del | |
ENST00000622857.1:c.16-1043del | ENSP00000481365.1:n.16-1043del | |
NM_175875.4:c.954del | NP_787071.2:p.Ser319ProfsTer5 | |
NM_175875.5:c.954del MANE Select | NP_787071.3:p.Ser319ProfsTer5 |