Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99985490_99985492dup , CM000675.2:g.99985490_99985492dup | GRCh38 |
| NC_000013.10:g.100637744_100637746dup , CM000675.1:g.100637744_100637746dup | GRCh37 |
| NC_000013.9:g.99435745_99435747dup | NCBI36 |
| NG_007085.2:g.8426_8428dup | |
| NG_007085.3:g.8735_8737dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376335.8:c.1407_1409dup MANE Select | ENSP00000365514.3:p.Ala470_Val471insAla | |
| ENST00000376335.7:c.1407_1409dup | ENSP00000365514.3:p.Ala470_Val471insAla | |
| ENST00000620342.1:c.1404_1406dup | ENSP00000481510.1:p.Ala469_Val470insAla | |
| NM_007129.3:c.1407_1409dup | NP_009060.2:p.Ala470_Val471insAla | |
| NM_007129.4:c.1407_1409dup | NP_009060.2:p.Ala470_Val471insAla | |
| NM_007129.5:c.1407_1409dup MANE Select | NP_009060.2:p.Ala470_Val471insAla |