Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980511del , CM000667.2:g.149980511del | GRCh38 |
| NC_000005.9:g.149360074del , CM000667.1:g.149360074del | GRCh37 |
| NC_000005.8:g.149340267del | NCBI36 |
| NG_007147.2:g.21629del , LRG_684:g.21629del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.918del MANE Select | NP_000103.2:p.Thr307ProfsTer? |
| ENST00000286298.5:c.918del MANE Select | ENSP00000286298.4:p.Thr307ProfsTer? |
| NM_000112.3:c.918del , LRG_684t1:c.918del | NP_000103.2:p.Thr307ProfsTer? |
| ENST00000286298.4:c.918del | ENSP00000286298.4:p.Thr307ProfsTer? |
| ENST00000503336.1:c.372+2160del | ENSP00000426053.1:n.372+2160del |
| XM_017009191.2:c.918del | XP_016864680.1:p.Thr307ProfsTer? |