Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178014380dup , CM000664.2:g.178014380dup | GRCh38 |
| NC_000002.11:g.178879107dup , CM000664.1:g.178879107dup | GRCh37 |
| NC_000002.10:g.178587353dup | NCBI36 |
| NG_012168.1:g.98960dup | |
| NG_012168.2:g.98960dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286063.11:c.993dup MANE Select | ENSP00000286063.5:p.Asp332Ter | |
| ENST00000286063.10:c.993dup | ENSP00000286063.5:p.Asp332Ter | |
| ENST00000358450.8:c.243dup | ENSP00000351232.4:p.Asp82Ter | |
| NM_001077197.1:c.243dup | NP_001070665.1:p.Asp82Ter | |
| NM_016953.3:c.993dup | NP_058649.3:p.Asp332Ter | |
| NM_016953.4:c.993dup MANE Select | NP_058649.3:p.Asp332Ter | |
| NM_001077197.2:c.243dup | NP_001070665.1:p.Asp82Ter |