Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271494_31271638del , CM000668.2:g.31271494_31271638del | GRCh38 |
| NC_000006.11:g.31239271_31239415del , CM000668.1:g.31239271_31239415del | GRCh37 |
| NC_000006.10:g.31347250_31347394del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.314_343+115del | ||
| ENST00000376228.9:c.314_343+115del | ||
| ENST00000376237.8:c.314_343+115del | ||
| ENST00000383329.7:c.314_343+115del | ||
| ENST00000415537.1:c.312_341+115del | ||
| ENST00000484378.1:n.333_477del | ||
| ENST00000487245.5:n.423_567del | ||
| ENST00000495835.1:n.503_532+115del | ||
| NM_002117.5:c.314_343+115del | ||
| NM_002117.6:c.314_343+115del |