Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124869533dup , CM000673.2:g.124869533dup | GRCh38 |
| NC_000011.9:g.124739429dup , CM000673.1:g.124739429dup | GRCh37 |
| NC_000011.8:g.124244639dup | NCBI36 |
| NG_016214.1:g.9125dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022370.4:c.571dup MANE Select | NP_071765.2:p.Arg191ProfsTer? |
| ENST00000397801.6:c.571dup MANE Select | ENSP00000380903.1:p.Arg191ProfsTer? |
| NM_022370.3:c.571dup | NP_071765.2:p.Arg191ProfsTer? |
| ENST00000397801.5:c.571dup | ENSP00000380903.1:p.Arg191ProfsTer? |
| ENST00000538940.5:c.505dup | ENSP00000441797.1:p.Arg169ProfsTer? |
| XM_011542953.1:c.1543dup | XP_011541255.1:p.Arg515ProfsTer? |
| XM_017018122.1:c.505dup | XP_016873611.1:p.Arg169ProfsTer? |