Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451612_52451615dup , CM000674.2:g.52451612_52451615dup | GRCh38 |
| NC_000012.11:g.52845396_52845399dup , CM000674.1:g.52845396_52845399dup | GRCh37 |
| NC_000012.10:g.51131663_51131666dup | NCBI36 |
| NG_008299.1:g.5515_5518dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.467_470dup MANE Select | ENSP00000252252.3:p.Gln157HisfsTer10 | |
| ENST00000252252.3:c.467_470dup | ENSP00000252252.3:p.Gln157HisfsTer10 | |
| NM_005555.3:c.467_470dup | NP_005546.2:p.Gln157HisfsTer10 | |
| NM_005555.4:c.467_470dup MANE Select | NP_005546.2:p.Gln157HisfsTer10 |