Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1444464_1444465del , CM000667.2:g.1444464_1444465del | GRCh38 |
| NC_000005.9:g.1444579_1444580del , CM000667.1:g.1444579_1444580del | GRCh37 |
| NC_000005.8:g.1497579_1497580del | NCBI36 |
| NG_015885.1:g.5966_5967del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.-46+885_-46+886del MANE Select | ENSP00000270349.9:n.-46+885_-46+886del | |
| ENST00000270349.11:c.-46+885_-46+886del | ENSP00000270349.9:n.-46+885_-46+886del | |
| NM_001044.4:c.-46+885_-46+886del | NP_001035.1:n.-46+885_-46+886del | |
| NM_001044.5:c.-46+885_-46+886del MANE Select | NP_001035.1:n.-46+885_-46+886del |