Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981713_149981714del , CM000667.2:g.149981713_149981714del | GRCh38 |
| NC_000005.9:g.149361276_149361277del , CM000667.1:g.149361276_149361277del | GRCh37 |
| NC_000005.8:g.149341469_149341470del | NCBI36 |
| NG_007147.2:g.22831_22832del , LRG_684:g.22831_22832del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.2120_2121del MANE Select | NP_000103.2:p.Leu707ProfsTer4 |
| ENST00000286298.5:c.2120_2121del MANE Select | ENSP00000286298.4:p.Leu707ProfsTer4 |
| NM_000112.3:c.2120_2121del , LRG_684t1:c.2120_2121del | NP_000103.2:p.Leu707ProfsTer4 |
| ENST00000286298.4:c.2120_2121del | ENSP00000286298.4:p.Leu707ProfsTer4 |
| ENST00000503336.1:c.372+3362_372+3363del | ENSP00000426053.1:n.372+3362_372+3363del |
| XM_017009191.2:c.2120_2121del | XP_016864680.1:p.Leu707ProfsTer4 |