Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271355_31271603del , CM000668.2:g.31271355_31271603del | GRCh38 |
| NC_000006.11:g.31239132_31239380del , CM000668.1:g.31239132_31239380del | GRCh37 |
| NC_000006.10:g.31347111_31347359del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.341_344-5del | ||
| ENST00000376228.9:c.341_344-5del | ||
| ENST00000376237.8:c.341_344-22del | ||
| ENST00000383329.7:c.341_344-5del | ||
| ENST00000415537.1:c.339_342-5del | ||
| ENST00000484378.1:n.360_608del | ||
| ENST00000487245.5:n.450_698del | ||
| ENST00000495835.1:n.530_533-5del | ||
| NM_002117.5:c.341_344-5del | ||
| NM_002117.6:c.341_344-5del |