Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011045_21011046del , CM000664.2:g.21011045_21011046del | GRCh38 |
| NC_000002.11:g.21233917_21233918del , CM000664.1:g.21233917_21233918del | GRCh37 |
| NC_000002.10:g.21087422_21087423del | NCBI36 |
| NG_011793.1:g.38028_38029del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.5822_5823del MANE Select | ENSP00000233242.1:p.Thr1941IlefsTer4 | |
| ENST00000616098.4:c.5822_5823del | ENSP00000477990.1:p.Thr1941IlefsTer4 | |
| NM_000384.2:c.5822_5823del | NP_000375.2:p.Thr1941IlefsTer4 | |
| XM_011532809.1:c.5822_5823del | XP_011531111.1:p.Thr1941IlefsTer4 | |
| NM_000384.3:c.5822_5823del MANE Select | NP_000375.3:p.Thr1941IlefsTer4 |