Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74752064dup , CM000677.2:g.74752064dup | GRCh38 |
| NC_000015.9:g.75044405dup , CM000677.1:g.75044405dup | GRCh37 |
| NC_000015.8:g.72831458dup | NCBI36 |
| NG_008431.1:g.34523dup | |
| NG_008431.2:g.34523dup | |
| NG_061543.1:g.8220dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1043-60dup MANE Select | ENSP00000342007.4:n.1043-60dup | |
| ENST00000343932.4:c.1043-60dup | ENSP00000342007.4:n.1043-60dup | |
| NM_000761.4:c.1043-60dup | NP_000752.2:n.1043-60dup | |
| NM_000761.5:c.1043-60dup MANE Select | NP_000752.2:n.1043-60dup |