HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45767005_45767007del , CM000681.2:g.45767005_45767007del | GRCh38 |
NC_000019.9:g.46270263_46270265del , CM000681.1:g.46270263_46270265del | GRCh37 |
NC_000019.8:g.50962103_50962105del | NCBI36 |
NG_012745.1:g.7239_7241del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.958_960del MANE Select | ENSP00000316842.4:p.Ser320del | |
ENST00000317578.6:c.958_960del | ENSP00000316842.4:p.Ser320del | |
ENST00000560160.1:c.587-890_587-888del | ||
ENST00000560168.1:c.*146_*148del | ENSP00000453189.2:n.*146_*148del | |
ENST00000622857.1:c.16-1039_16-1037del | ENSP00000481365.1:n.16-1039_16-1037del | |
NM_175875.4:c.958_960del | NP_787071.2:p.Ser320del | |
NM_175875.5:c.958_960del MANE Select | NP_787071.3:p.Ser320del |