Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199184del , CM000671.2:g.137199184del | GRCh38 |
| NC_000009.11:g.140093636del , CM000671.1:g.140093636del | GRCh37 |
| NC_000009.10:g.139213457del | NCBI36 |
| NG_027801.1:g.6530del | |
| NG_027801.2:g.10012del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128228.3:c.1530del MANE Select | NP_001121700.2:p.Thr511LeufsTer? |
| ENST00000409012.6:c.1530del MANE Select | ENSP00000387100.4:p.Thr511LeufsTer? |
| NM_001128228.2:c.1530del | NP_001121700.2:p.Thr511LeufsTer? |
| ENST00000333046.8:c.924del | ENSP00000327617.4:p.Thr309LeufsTer? |
| ENST00000409012.4:c.1530del | ENSP00000387100.4:p.Thr511LeufsTer? |
| ENST00000541945.1:n.90+4922del |