Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785929_18785943dup , CM000681.2:g.18785929_18785943dup | GRCh38 |
| NC_000019.9:g.18896739_18896753dup , CM000681.1:g.18896739_18896753dup | GRCh37 |
| NC_000019.8:g.18757739_18757753dup | NCBI36 |
| NG_007070.1:g.10363_10377dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1489+23_1489+37dup MANE Select | ENSP00000222271.2:n.1489+23_1489+37dup | |
| ENST00000222271.6:c.1489+23_1489+37dup | ENSP00000222271.2:n.1489+23_1489+37dup | |
| ENST00000425807.1:c.1330+23_1330+37dup | ENSP00000403792.1:n.1330+23_1330+37dup | |
| ENST00000542601.6:c.1390+23_1390+37dup | ENSP00000439156.2:n.1390+23_1390+37dup | |
| NM_000095.2:c.1489+23_1489+37dup | NP_000086.2:n.1489+23_1489+37dup | |
| NM_000095.3:c.1489+23_1489+37dup MANE Select | NP_000086.2:n.1489+23_1489+37dup |