Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738337_120738338del , CM000674.2:g.120738337_120738338del | GRCh38 |
| NC_000012.11:g.121176140_121176141del , CM000674.1:g.121176140_121176141del | GRCh37 |
| NC_000012.10:g.119660523_119660524del | NCBI36 |
| NG_007991.1:g.17570_17571del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000017.4:c.682_683del MANE Select | NP_000008.1:p.Glu228ArgfsTer16 |
| ENST00000242592.9:c.682_683del MANE Select | ENSP00000242592.4:p.Glu228ArgfsTer16 |
| NM_000017.3:c.682_683del | NP_000008.1:p.Glu228ArgfsTer16 |
| NM_001302554.1:c.670_671del | NP_001289483.1:p.Glu224ArgfsTer16 |
| NM_001302554.2:c.670_671del | NP_001289483.1:p.Glu224ArgfsTer16 |
| ENST00000242592.8:c.682_683del | ENSP00000242592.4:p.Glu228ArgfsTer16 |
| ENST00000411593.2:c.670_671del | ENSP00000401045.2:p.Glu224ArgfsTer16 |