Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.113387787_113387788dup , CM000667.2:g.113387787_113387788dup | GRCh38 |
| NC_000005.9:g.112723484_112723485dup , CM000667.1:g.112723484_112723485dup | GRCh37 |
| NC_000005.8:g.112751383_112751384dup | NCBI36 |
| NG_012265.1:g.106044_106045dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408903.7:c.171-2575_171-2574dup MANE Select | ENSP00000386227.3:n.171-2575_171-2574dup | |
| ENST00000408903.6:c.171-2575_171-2574dup | ENSP00000386227.3:n.171-2575_171-2574dup | |
| NM_001085377.1:c.171-2575_171-2574dup | NP_001078846.1:n.171-2575_171-2574dup | |
| XM_017009473.1:c.171-2575_171-2574dup | XP_016864962.1:n.171-2575_171-2574dup | |
| NM_001085377.2:c.171-2575_171-2574dup MANE Select | NP_001078846.2:n.171-2575_171-2574dup |