Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74422064_74422086del , CM000685.2:g.74422064_74422086del | GRCh38 |
| NC_000023.10:g.73641899_73641921del , CM000685.1:g.73641899_73641921del | GRCh37 |
| NC_000023.9:g.73558624_73558646del | NCBI36 |
| NG_011641.1:g.5815_5837del | |
| NG_011641.2:g.5815_5837del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.427_430+19del | ||
| ENST00000636771.1:c.173_176+19del | ||
| ENST00000587091.5:c.427_430+19del | ||
| NM_006517.4:c.427_430+19del | ||
| XM_005262294.1:c.427_430+19del | ||
| XM_011531015.1:c.427_430+19del | ||
| NM_006517.5:c.427_430+19del |