ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47995915_47995939del , CM000674.2:g.47995915_47995939del | GRCh38 |
| NC_000012.11:g.48389698_48389722del , CM000674.1:g.48389698_48389722del | GRCh37 |
| NC_000012.10:g.46675965_46675989del | NCBI36 |
| NG_008072.1:g.13567_13591del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.403-17_410del | ||
| ENST00000380518.8:c.610-17_617del | ||
| ENST00000337299.6:c.403-17_410del | ||
| ENST00000380518.7:c.610-17_617del | ||
| NM_001844.4:c.610-17_617del | ||
| NM_033150.2:c.403-17_410del | ||
| XM_006719242.2:c.754-17_761del | ||
| XM_011537928.1:c.754-17_761del | ||
| XM_011537929.1:c.754-17_761del | ||
| XM_011537930.1:c.754-17_761del | ||
| XM_011537931.1:c.754-17_761del | ||
| XM_011537932.1:c.754-17_761del | ||
| XM_011537933.1:c.754-17_761del | ||
| XM_011537934.1:c.751-17_758del | ||
| XM_017018828.1:c.754-17_761del | ||
| XM_017018829.1:c.751-17_758del | ||
| XM_017018830.1:c.544-17_551del | ||
| XM_017018831.2:c.64-17_71del | ||
| NM_001844.5:c.610-17_617del | ||
| NM_033150.3:c.403-17_410del |