Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675444_52675446delinsCGG , CM000674.2:g.52675444_52675446delinsCGG | GRCh38 |
| NC_000012.11:g.53069228_53069230delinsCGG , CM000674.1:g.53069228_53069230delinsCGG | GRCh37 |
| NC_000012.10:g.51355495_51355497delinsCGG | NCBI36 |
| NG_008364.1:g.9962_9964delinsCCG | |
| NG_008364.2:g.9962_9964delinsCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1682_1684delinsCCG MANE Select | ENSP00000252244.3:p.Ser561= | |
| NM_006121.3:c.1682_1684delinsCCG | NP_006112.3:p.Ser561= | |
| NM_006121.4:c.1682_1684delinsCCG MANE Select | NP_006112.3:p.Ser561= |