Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767410_28767458del , CM000676.2:g.28767410_28767458del | GRCh38 |
| NC_000014.8:g.29236616_29236664del , CM000676.1:g.29236616_29236664del | GRCh37 |
| NC_000014.7:g.28306367_28306415del | NCBI36 |
| NG_009367.1:g.5330_5378del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.131_179del | ENSP00000516406.1:p.His44ArgfsTer? | |
| ENST00000313071.7:c.131_179del MANE Select | ENSP00000339004.3:p.His44ArgfsTer? | |
| ENST00000313071.6:c.131_179del | ENSP00000339004.3:p.His44ArgfsTer? | |
| NM_005249.4:c.131_179del | NP_005240.3:p.His44ArgfsTer? | |
| NM_005249.5:c.131_179del MANE Select | NP_005240.3:p.His44ArgfsTer? |