Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101319828_101319831del , CM000665.2:g.101319828_101319831del | GRCh38 |
| NC_000003.11:g.101038672_101038675del , CM000665.1:g.101038672_101038675del | GRCh37 |
| NC_000003.10:g.102521362_102521365del | NCBI36 |
| NG_028284.1:g.5747_5750del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.89_92del MANE Select | NP_057331.2:p.Gln30ProfsTer5 |
| ENST00000193391.8:c.89_92del MANE Select | ENSP00000193391.6:p.Gln30ProfsTer5 |
| NM_016247.3:c.89_92del | NP_057331.2:p.Gln30ProfsTer5 |
| ENST00000193391.7:c.89_92del | ENSP00000193391.6:p.Gln30ProfsTer5 |
| XM_011512872.1:c.-323_-320del | XP_011511174.1:n.-323_-320del |