Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457687_49457692del , CM000668.2:g.49457687_49457692del | GRCh38 |
| NC_000006.11:g.49425400_49425405del , CM000668.1:g.49425400_49425405del | GRCh37 |
| NC_000006.10:g.49533359_49533364del | NCBI36 |
| NG_007100.1:g.10449_10454del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.753_753+5del | ||
| ENST00000274813.3:c.753_753+5del | ||
| NM_000255.3:c.753_753+5del | ||
| XM_005249143.2:c.753_753+5del | ||
| XM_005249143.3:c.753_753+5del | ||
| NM_000255.4:c.753_753+5del |