Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675415_52675416del , CM000674.2:g.52675415_52675416del | GRCh38 |
| NC_000012.11:g.53069199_53069200del , CM000674.1:g.53069199_53069200del | GRCh37 |
| NC_000012.10:g.51355466_51355467del | NCBI36 |
| NG_008364.1:g.9993_9994del | |
| NG_008364.2:g.9993_9994del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1713_1714del MANE Select | ENSP00000252244.3:p.Gly572ArgfsTer? | |
| NM_006121.3:c.1713_1714del | NP_006112.3:p.Gly572ArgfsTer? | |
| NM_006121.4:c.1713_1714del MANE Select | NP_006112.3:p.Gly572ArgfsTer? |