Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8531912_8535179del , CM000685.2:g.8531912_8535179del | GRCh38 |
| NC_000023.10:g.8499953_8503220del , CM000685.1:g.8499953_8503220del | GRCh37 |
| NC_000023.9:g.8459953_8463220del | NCBI36 |
| NG_007088.1:g.202008_205275del | |
| NG_007088.2:g.202008_205275del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.1842+412_*1083del | ||
| ENST00000262648.7:c.1842+412_*1083del | ||
| NM_000216.2:c.1842+412_*1083del | ||
| NM_000216.3:c.1842+412_*1083del | ||
| NM_000216.4:c.1842+412_*1083del |