Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114706791_114706796del , CM000663.2:g.114706791_114706796del | GRCh38 |
| NC_000001.10:g.115249412_115249417del , CM000663.1:g.115249412_115249417del | GRCh37 |
| NC_000001.9:g.115050935_115050940del | NCBI36 |
| NG_007572.1:g.15100_15105del , LRG_92:g.15100_15105del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.*1299_*1304del MANE Select | ENSP00000358548.4:n.*1299_*1304del | |
| ENST00000369535.4:c.*1299_*1304del | ENSP00000358548.4:n.*1299_*1304del | |
| NM_002524.4:c.*1299_*1304del | NP_002515.1:n.*1299_*1304del | |
| NM_002524.5:c.*1299_*1304del MANE Select | NP_002515.1:n.*1299_*1304del |