Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084811del , CM000685.2:g.108084811del | GRCh38 |
| NC_000023.10:g.107328041del , CM000685.1:g.107328041del | GRCh37 |
| NC_000023.9:g.107214697del | NCBI36 |
| NG_012521.1:g.11809del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*164del MANE Select | ENSP00000217958.3:n.*164del | |
| ENST00000217958.7:c.*164del | ENSP00000217958.3:n.*164del | |
| ENST00000372295.5:c.*164del | ENSP00000361369.1:n.*164del | |
| ENST00000372296.5:c.*310del | ENSP00000361370.1:n.*310del | |
| NM_002814.3:c.*164del | NP_002805.1:n.*164del | |
| NM_170750.2:c.*310del | NP_736606.1:n.*310del | |
| NM_002814.4:c.*164del MANE Select | NP_002805.1:n.*164del | |
| NM_170750.3:c.*310del | NP_736606.1:n.*310del |