Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42697443_42697446del , CM000668.2:g.42697443_42697446del | GRCh38 |
| NC_000006.11:g.42665181_42665184del , CM000668.1:g.42665181_42665184del | GRCh37 |
| NC_000006.10:g.42773159_42773162del | NCBI36 |
| NG_009176.1:g.30177_30180del | |
| NG_009176.2:g.30177_30180del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.*851_*854del MANE Select | NP_000313.2:n.*851_*854del |
| ENST00000230381.7:c.*851_*854del MANE Select | ENSP00000230381.5:n.*851_*854del |
| NM_000322.4:c.*851_*854del | NP_000313.2:n.*851_*854del |
| ENST00000230381.6:c.*851_*854del | ENSP00000230381.5:n.*851_*854del |
| XR_926295.3:n.2779_2782del |