Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767411_28767417delinsCCCCCAG , CM000676.2:g.28767411_28767417delinsCCCCCAG | GRCh38 |
| NC_000014.8:g.29236617_29236623delinsCCCCCAG , CM000676.1:g.29236617_29236623delinsCCCCCAG | GRCh37 |
| NC_000014.7:g.28306368_28306374delinsCCCCCAG | NCBI36 |
| NG_009367.1:g.5331_5337delinsCCCCCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.132_138delinsCCCCCAG | ENSP00000516406.1:p.His44= | |
| ENST00000313071.7:c.132_138delinsCCCCCAG MANE Select | ENSP00000339004.3:p.His44= | |
| ENST00000313071.6:c.132_138delinsCCCCCAG | ENSP00000339004.3:p.His44= | |
| NM_005249.4:c.132_138delinsCCCCCAG | NP_005240.3:p.His44= | |
| NM_005249.5:c.132_138delinsCCCCCAG MANE Select | NP_005240.3:p.His44= |