Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17103500_17103504del , CM000684.2:g.17103500_17103504del | GRCh38 |
| NC_000022.10:g.17584390_17584394del , CM000684.1:g.17584390_17584394del | GRCh37 |
| NC_000022.9:g.15964390_15964394del | NCBI36 |
| NG_028257.1:g.23540_23544del , LRG_355:g.23540_23544del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.769_773del | ENSP00000479970.1:p.Pro257ArgfsTer16 | |
| ENST00000694950.1:c.663_667del | ||
| ENST00000694951.1:n.727_731del | ||
| ENST00000319363.11:c.769_773del MANE Select | ENSP00000320936.6:p.Pro257ArgfsTer16 | |
| ENST00000319363.10:c.769_773del | ENSP00000320936.6:p.Pro257ArgfsTer16 | |
| ENST00000612619.1:c.769_773del | ENSP00000479970.1:p.Pro257ArgfsTer16 | |
| NM_001289905.1:c.769_773del | NP_001276834.1:p.Pro257ArgfsTer16 | |
| NM_014339.6:c.769_773del , LRG_355t1:c.769_773del | NP_055154.3:p.Pro257ArgfsTer16 | |
| NM_014339.7:c.769_773del MANE Select | NP_055154.3:p.Pro257ArgfsTer16 | |
| NM_001289905.2:c.769_773del | NP_001276834.1:p.Pro257ArgfsTer16 |