Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1393785_1393824dup , CM000667.2:g.1393785_1393824dup | GRCh38 |
| NC_000005.9:g.1393900_1393939dup , CM000667.1:g.1393900_1393939dup | GRCh37 |
| NC_000005.8:g.1446900_1446939dup | NCBI36 |
| NG_015885.1:g.56644_56683dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.*950_*989dup MANE Select | ENSP00000270349.9:n.*950_*989dup | |
| ENST00000270349.11:c.*950_*989dup | ENSP00000270349.9:n.*950_*989dup | |
| NM_001044.4:c.*950_*989dup | NP_001035.1:n.*950_*989dup | |
| NM_001044.5:c.*950_*989dup MANE Select | NP_001035.1:n.*950_*989dup |