Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6936736_6936743del , CM000674.2:g.6936736_6936743del | GRCh38 |
| NC_000012.11:g.7045899_7045906del , CM000674.1:g.7045899_7045906del | GRCh37 |
| NC_000012.10:g.6916160_6916167del | NCBI36 |
| NG_008047.1:g.17274_17281del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396684.3:c.1469_1476del MANE Select | ENSP00000379915.2:p.Gln490ProfsTer? | |
| ENST00000356654.8:c.1469_1476del | ENSP00000349076.3:p.Gln490ProfsTer? | |
| ENST00000396684.2:c.1469_1476del | ENSP00000379915.2:p.Gln490ProfsTer? | |
| NM_001007026.1:c.1469_1476del | NP_001007027.1:p.Gln490ProfsTer? | |
| NM_001940.3:c.1469_1476del | NP_001931.2:p.Gln490ProfsTer? | |
| NM_001940.4:c.1469_1476del MANE Select | NP_001931.2:p.Gln490ProfsTer? | |
| NM_001007026.2:c.1469_1476del | NP_001007027.1:p.Gln490ProfsTer? |