HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898792del , CM000679.2:g.4898792del | GRCh38 |
NC_000017.10:g.4802087del , CM000679.1:g.4802087del | GRCh37 |
NC_000017.9:g.4742866del | NCBI36 |
NG_008029.2:g.9287del | |
NG_028005.1:g.70453del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.1429del MANE Select | ENSP00000497829.1:p.Ala477ProfsTer30 | |
ENST00000649830.1:c.*65del | ENSP00000496907.1:n.*65del | |
ENST00000652550.1:n.1155del | ||
ENST00000293780.4:c.1429del | ENSP00000293780.4:p.Ala477ProfsTer30 | |
ENST00000572438.1:n.1115del | ||
NM_000080.3:c.1429del | NP_000071.1:p.Ala477ProfsTer30 | |
NM_000080.4:c.1429del MANE Select | NP_000071.1:p.Ala477ProfsTer30 | |
XM_017024115.1:c.1393del | XP_016879604.1:p.Ala465ProfsTer30 |