Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845624_99845640del , CM000672.2:g.99845624_99845640del | GRCh38 |
| NC_000010.10:g.101605381_101605397del , CM000672.1:g.101605381_101605397del | GRCh37 |
| NC_000010.9:g.101595371_101595387del | NCBI36 |
| NG_011798.1:g.67919_67935del | |
| NG_011798.2:g.68027_68043del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3988_4004del | ||
| ENST00000649459.1:n.336_352del | ||
| ENST00000370449.8:c.3988_4004del | ||
| NM_000392.4:c.3988_4004del | ||
| XM_006717630.2:c.3292_3308del | ||
| XR_945604.1:n.4177-59_4177-43del | ||
| XR_945605.1:n.4052_4068del | ||
| NM_000392.5:c.3988_4004del | ||
| XM_006717630.3:c.3292_3308del | ||
| XR_945604.3:n.4231-59_4231-43del | ||
| XR_945605.3:n.4104_4120del |