Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675430_52675450dup , CM000674.2:g.52675430_52675450dup | GRCh38 |
| NC_000012.11:g.53069214_53069234dup , CM000674.1:g.53069214_53069234dup | GRCh37 |
| NC_000012.10:g.51355481_51355501dup | NCBI36 |
| NG_008364.1:g.9963_9983dup | |
| NG_008364.2:g.9963_9983dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1683_1703dup MANE Select | ENSP00000252244.3:p.Ser568_Gly569insGlyGlyGlySerTyrGlySer | |
| NM_006121.3:c.1683_1703dup | NP_006112.3:p.Ser568_Gly569insGlyGlyGlySerTyrGlySer | |
| NM_006121.4:c.1683_1703dup MANE Select | NP_006112.3:p.Ser568_Gly569insGlyGlyGlySerTyrGlySer |