Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1423851_1423857del , CM000667.2:g.1423851_1423857del | GRCh38 |
| NC_000005.9:g.1423966_1423972del , CM000667.1:g.1423966_1423972del | GRCh37 |
| NC_000005.8:g.1476966_1476972del | NCBI36 |
| NG_015885.1:g.26573_26579del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.654-1842_654-1836del MANE Select | ENSP00000270349.9:n.654-1842_654-1836del | |
| ENST00000270349.11:c.654-1842_654-1836del | ENSP00000270349.9:n.654-1842_654-1836del | |
| NM_001044.4:c.654-1842_654-1836del | NP_001035.1:n.654-1842_654-1836del | |
| NM_001044.5:c.654-1842_654-1836del MANE Select | NP_001035.1:n.654-1842_654-1836del |