Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350244_47350245insTGTGTC , CM000672.2:g.47350244_47350245insTGTGTC | GRCh38 |
| NC_000010.10:g.48389117_48389118insGACACA , CM000672.1:g.48389117_48389118insGACACA | GRCh37 |
| NC_000010.9:g.48009123_48009124insGACACA | NCBI36 |
| NG_029718.1:g.6874_6875insTGTGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1760_1761insTGTGTC MANE Select | ENSP00000463151.1:p.Gly587_Ser588insValSer | |
| ENST00000584701.1:c.1760_1761insTGTGTC | ENSP00000463151.1:p.Gly587_Ser588insValSer | |
| NM_002900.2:c.1760_1761insTGTGTC | NP_002891.1:p.Gly587_Ser588insValSer | |
| NM_002900.3:c.1760_1761insTGTGTC MANE Select | NP_002891.1:p.Gly587_Ser588insValSer |