Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898739_4898741del , CM000679.2:g.4898739_4898741del | GRCh38 |
| NC_000017.10:g.4802034_4802036del , CM000679.1:g.4802034_4802036del | GRCh37 |
| NC_000017.9:g.4742813_4742815del | NCBI36 |
| NG_008029.2:g.9335_9337del | |
| NG_028005.1:g.70400_70402del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1477_1479del MANE Select | ENSP00000497829.1:p.Pro493del | |
| ENST00000649830.1:c.*113_*115del | ENSP00000496907.1:n.*113_*115del | |
| ENST00000652550.1:n.1203_1205del | ||
| ENST00000293780.4:c.1477_1479del | ENSP00000293780.4:p.Pro493del | |
| ENST00000572438.1:n.1163_1165del | ||
| NM_000080.3:c.1477_1479del | NP_000071.1:p.Pro493del | |
| NM_000080.4:c.1477_1479del MANE Select | NP_000071.1:p.Pro493del | |
| XM_017024115.1:c.1441_1443del | XP_016879604.1:p.Pro481del |