Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124869533del , CM000673.2:g.124869533del | GRCh38 |
| NC_000011.9:g.124739429del , CM000673.1:g.124739429del | GRCh37 |
| NC_000011.8:g.124244639del | NCBI36 |
| NG_016214.1:g.9125del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022370.4:c.571del MANE Select | NP_071765.2:p.Arg191AlafsTer? |
| ENST00000397801.6:c.571del MANE Select | ENSP00000380903.1:p.Arg191AlafsTer? |
| NM_022370.3:c.571del | NP_071765.2:p.Arg191AlafsTer? |
| ENST00000397801.5:c.571del | ENSP00000380903.1:p.Arg191AlafsTer? |
| ENST00000538940.5:c.505del | ENSP00000441797.1:p.Arg169AlafsTer? |
| XM_011542953.1:c.1543del | XP_011541255.1:p.Arg515AlafsTer? |
| XM_017018122.1:c.505del | XP_016873611.1:p.Arg169AlafsTer? |