Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786048_18786050dup , CM000681.2:g.18786048_18786050dup | GRCh38 |
| NC_000019.9:g.18896858_18896860dup , CM000681.1:g.18896858_18896860dup | GRCh37 |
| NC_000019.8:g.18757858_18757860dup | NCBI36 |
| NG_007070.1:g.10268_10270dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.1417_1419dup MANE Select | NP_000086.2:p.Asp473_Asn474insAsp |
| ENST00000222271.7:c.1417_1419dup MANE Select | ENSP00000222271.2:p.Asp473_Asn474insAsp |
| NM_000095.2:c.1417_1419dup | NP_000086.2:p.Asp473_Asn474insAsp |
| ENST00000222271.6:c.1417_1419dup | ENSP00000222271.2:p.Asp473_Asn474insAsp |
| ENST00000425807.1:c.1258_1260dup | ENSP00000403792.1:p.Asp420_Asn421insAsp |
| ENST00000542601.6:c.1318_1320dup | ENSP00000439156.2:p.Asp440_Asn441insAsp |