Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74752127_74752129delinsCTG , CM000677.2:g.74752127_74752129delinsCTG | GRCh38 |
| NC_000015.9:g.75044468_75044470delinsCTG , CM000677.1:g.75044468_75044470delinsCTG | GRCh37 |
| NC_000015.8:g.72831521_72831523delinsCTG | NCBI36 |
| NG_008431.1:g.34586_34588delinsCTG | |
| NG_008431.2:g.34586_34588delinsCTG | |
| NG_061543.1:g.8283_8285delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1046_1048delinsCTG MANE Select | ENSP00000342007.4:p.Thr349= | |
| ENST00000343932.4:c.1046_1048delinsCTG | ENSP00000342007.4:p.Thr349= | |
| NM_000761.4:c.1046_1048delinsCTG | NP_000752.2:p.Thr349= | |
| NM_000761.5:c.1046_1048delinsCTG MANE Select | NP_000752.2:p.Thr349= |