Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49995029_49995035del , CM000679.2:g.49995029_49995035del | GRCh38 |
| NC_000017.10:g.48072393_48072399del , CM000679.1:g.48072393_48072399del | GRCh37 |
| NC_000017.9:g.45427392_45427398del | NCBI36 |
| NG_023063.1:g.5191_5197del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.-36_-30del MANE Select | ENSP00000389870.2:n.-36_-30del | |
| NM_005220.2:c.-36_-30del | NP_005211.1:n.-36_-30del | |
| XM_011524458.1:c.-36_-30del | XP_011522760.1:n.-36_-30del | |
| NM_005220.3:c.-36_-30del MANE Select | NP_005211.1:n.-36_-30del |