Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36135372_36135374del , CM000683.2:g.36135372_36135374del | GRCh38 |
| NC_000021.8:g.37507670_37507672del , CM000683.1:g.37507670_37507672del | GRCh37 |
| NC_000021.7:g.36429540_36429542del | NCBI36 |
| NG_052818.1:g.5472_5474del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290354.6:c.180_182del (CBR3) MANE Select | ENSP00000290354.5:p.His60del | |
| ENST00000290354.5:c.180_182del (CBR3) | ENSP00000290354.5:p.His60del | |
| NM_001236.3:c.180_182del (CBR3) | NP_001227.1:p.His60del | |
| NR_038892.1:n.193-1610_193-1608del (CBR3-AS1) | ||
| NR_038893.1:n.193-2297_193-2295del (CBR3-AS1) | ||
| XM_011529772.1:c.180_182del (CBR3) | XP_011528074.1:p.His60del | |
| XM_011529772.2:c.180_182del (CBR3) | XP_011528074.1:p.His60del | |
| NM_001236.4:c.180_182del (CBR3) MANE Select | NP_001227.1:p.His60del |