Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96332202_96332208del , CM000677.2:g.96332202_96332208del | GRCh38 |
| NC_000015.9:g.96875431_96875437del , CM000677.1:g.96875431_96875437del | GRCh37 |
| NC_000015.8:g.94676435_94676441del | NCBI36 |
| NG_016753.1:g.11275_11281del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394166.8:c.97_103del MANE Select | ENSP00000377721.3:p.Pro33AlafsTer? | |
| ENST00000394166.7:c.97_103del | ENSP00000377721.3:p.Pro33AlafsTer? | |
| ENST00000421109.6:c.44-1874_44-1868del | ENSP00000401674.2:n.44-1874_44-1868del | |
| NM_001145155.1:c.44-1874_44-1868del | NP_001138627.1:n.44-1874_44-1868del | |
| NM_021005.3:c.97_103del | NP_066285.1:p.Pro33AlafsTer? | |
| NM_021005.4:c.97_103del MANE Select | NP_066285.1:p.Pro33AlafsTer? | |
| NM_001145155.2:c.44-1874_44-1868del | NP_001138627.1:n.44-1874_44-1868del |