Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733753_47733764del , CM000679.2:g.47733753_47733764del | GRCh38 |
| NC_000017.10:g.45811119_45811130del , CM000679.1:g.45811119_45811130del | GRCh37 |
| NC_000017.9:g.43166118_43166129del | NCBI36 |
| NG_012166.1:g.5510_5521del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.299_310del MANE Select | ENSP00000177694.1:p.Glu100_Pro104delinsAla | |
| ENST00000177694.1:c.299_310del | ENSP00000177694.1:p.Glu100_Pro104delinsAla | |
| ENST00000581328.1:n.329_340del | ||
| NM_013351.1:c.299_310del | NP_037483.1:p.Glu100_Pro104delinsAla | |
| XM_011524698.1:c.299_310del | XP_011523000.1:p.Glu100_Pro104delinsAla | |
| NM_013351.2:c.299_310del MANE Select | NP_037483.1:p.Glu100_Pro104delinsAla |