Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271350_31271599del , CM000668.2:g.31271350_31271599del | GRCh38 |
| NC_000006.11:g.31239127_31239376del , CM000668.1:g.31239127_31239376del | GRCh37 |
| NC_000006.10:g.31347106_31347355del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.343+2_344del | ||
| ENST00000376228.9:c.343+2_344del | ||
| ENST00000376237.8:c.343+2_344-17del | ||
| ENST00000383329.7:c.343+2_344del | ||
| ENST00000415537.1:c.341+2_342del | ||
| ENST00000484378.1:n.364_613del | ||
| ENST00000487245.5:n.454_703del | ||
| ENST00000495835.1:n.532+2_533del | ||
| NM_002117.5:c.343+2_344del | ||
| NM_002117.6:c.343+2_344del |