Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787640_18787643del , CM000681.2:g.18787640_18787643del | GRCh38 |
| NC_000019.9:g.18898449_18898452del , CM000681.1:g.18898449_18898452del | GRCh37 |
| NC_000019.8:g.18759449_18759452del | NCBI36 |
| NG_007070.1:g.8665_8668del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.985_988del MANE Select | ENSP00000222271.2:p.Pro329TrpfsTer? | |
| ENST00000222271.6:c.985_988del | ENSP00000222271.2:p.Pro329TrpfsTer? | |
| ENST00000425807.1:c.826_829del | ENSP00000403792.1:p.Pro276TrpfsTer? | |
| ENST00000542601.6:c.886_889del | ENSP00000439156.2:p.Pro296TrpfsTer? | |
| NM_000095.2:c.985_988del | NP_000086.2:p.Pro329TrpfsTer? | |
| NM_000095.3:c.985_988del MANE Select | NP_000086.2:p.Pro329TrpfsTer? |