Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271349del , CM000668.2:g.31271349del | GRCh38 |
| NC_000006.11:g.31239126del , CM000668.1:g.31239126del | GRCh37 |
| NC_000006.10:g.31347105del | NCBI36 |
| NG_029422.2:g.5785del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.345del | ||
| ENST00000376228.9:c.345del | ||
| ENST00000376237.8:c.344-16del | ENSP00000365412.4:n.344-16del | |
| ENST00000383329.7:c.345del | ||
| ENST00000415537.1:c.343del | ||
| ENST00000484378.1:n.614del | ||
| ENST00000487245.5:n.704del | ||
| ENST00000495835.1:n.534del | ||
| NM_002117.5:c.345del | ||
| NM_002117.6:c.345del |