Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749293_74749294delinsAG , CM000677.2:g.74749293_74749294delinsAG | GRCh38 |
| NC_000015.9:g.75041634_75041635delinsAG , CM000677.1:g.75041634_75041635delinsAG | GRCh37 |
| NC_000015.8:g.72828687_72828688delinsAG | NCBI36 |
| NG_008431.1:g.31752_31753delinsAG | |
| NG_008431.2:g.31752_31753delinsAG | |
| NG_061543.1:g.5449_5450delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.-10+396_-10+397delinsAG MANE Select | ENSP00000342007.4:n.-10+396_-10+397delinsAG | |
| ENST00000343932.4:c.-10+396_-10+397delinsAG | ENSP00000342007.4:n.-10+396_-10+397delinsAG | |
| NM_000761.4:c.-10+396_-10+397delinsAG | NP_000752.2:n.-10+396_-10+397delinsAG | |
| NM_000761.5:c.-10+396_-10+397delinsAG MANE Select | NP_000752.2:n.-10+396_-10+397delinsAG |