Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541904dup , CM000663.2:g.169541904dup | GRCh38 |
| NC_000001.10:g.169511142dup , CM000663.1:g.169511142dup | GRCh37 |
| NC_000001.9:g.167777766dup | NCBI36 |
| NG_011806.1:g.49629dup , LRG_553:g.49629dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.3187dup MANE Select | NP_000121.2:p.Arg1063LysfsTer3 |
| ENST00000367797.9:c.3187dup MANE Select | ENSP00000356771.3:p.Arg1063LysfsTer3 |
| NM_000130.4:c.3187dup , LRG_553t1:c.3187dup | NP_000121.2:p.Arg1063LysfsTer3 |
| ENST00000367796.3:c.3202dup | ENSP00000356770.3:p.Arg1068LysfsTer3 |
| ENST00000367797.7:c.3187dup | ENSP00000356771.3:p.Arg1063LysfsTer3 |
| XM_017000660.2:c.2776dup | XP_016856149.1:p.Arg926LysfsTer3 |