Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667315_31667318del , CM000683.2:g.31667315_31667318del | GRCh38 |
| NC_000021.8:g.33039628_33039631del , CM000683.1:g.33039628_33039631del | GRCh37 |
| NC_000021.7:g.31961499_31961502del | NCBI36 |
| NG_008689.1:g.12694_12697del , LRG_652:g.12694_12697del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.297_300del MANE Select | ENSP00000270142.7:p.Ile100LysfsTer4 | |
| ENST00000270142.10:c.297_300del | ENSP00000270142.6:p.Ile100LysfsTer4 | |
| ENST00000389995.4:c.240_243del | ENSP00000374645.4:p.Ile81LysfsTer4 | |
| ENST00000470944.1:n.1225_1228del | ||
| ENST00000476106.5:n.560_563del | ||
| NM_000454.4:c.297_300del , LRG_652t1:c.297_300del | NP_000445.1:p.Ile100LysfsTer4 | |
| NM_000454.5:c.297_300del MANE Select | NP_000445.1:p.Ile100LysfsTer4 |