Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898779_4898783del , CM000679.2:g.4898779_4898783del | GRCh38 |
| NC_000017.10:g.4802074_4802078del , CM000679.1:g.4802074_4802078del | GRCh37 |
| NC_000017.9:g.4742853_4742857del | NCBI36 |
| NG_008029.2:g.9293_9297del | |
| NG_028005.1:g.70440_70444del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1435_1439del MANE Select | ENSP00000497829.1:p.Phe479ProfsTer4 | |
| ENST00000649830.1:c.*71_*75del | ENSP00000496907.1:n.*71_*75del | |
| ENST00000652550.1:n.1161_1165del | ||
| ENST00000293780.4:c.1435_1439del | ENSP00000293780.4:p.Phe479ProfsTer4 | |
| ENST00000572438.1:n.1121_1125del | ||
| NM_000080.3:c.1435_1439del | NP_000071.1:p.Phe479ProfsTer4 | |
| NM_000080.4:c.1435_1439del MANE Select | NP_000071.1:p.Phe479ProfsTer4 | |
| XM_017024115.1:c.1399_1403del | XP_016879604.1:p.Phe467ProfsTer4 |