Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489453_130489468del , CM000671.2:g.130489453_130489468del | GRCh38 |
| NC_000009.11:g.133364840_133364855del , CM000671.1:g.133364840_133364855del | GRCh37 |
| NC_000009.10:g.132354661_132354676del | NCBI36 |
| NG_011542.1:g.49747_49762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.959_970+4del | ||
| ENST00000352480.9:c.959_970+4del | ||
| ENST00000372386.6:n.230_241+4del | ||
| ENST00000372393.7:c.959_970+4del | ||
| ENST00000372394.5:c.959_970+4del | ||
| NM_000050.4:c.959_970+4del | ||
| NM_054012.3:c.959_970+4del | ||
| XM_005272200.2:c.959_970+4del | ||
| XM_011518705.1:c.1073_1084+4del | ||
| XM_005272200.3:c.959_970+4del | ||
| XM_011518705.2:c.1073_1084+4del | ||
| XM_017014729.1:c.1055_1066+4del | ||
| NM_054012.4:c.959_970+4del |