Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541903_169541904delinsTT , CM000663.2:g.169541903_169541904delinsTT | GRCh38 |
| NC_000001.10:g.169511141_169511142delinsTT , CM000663.1:g.169511141_169511142delinsTT | GRCh37 |
| NC_000001.9:g.167777765_167777766delinsTT | NCBI36 |
| NG_011806.1:g.49628_49629delinsAA , LRG_553:g.49628_49629delinsAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.3186_3187delinsAA MANE Select | ENSP00000356771.3:p.Arg1062= | |
| ENST00000367796.3:c.3201_3202delinsAA | ENSP00000356770.3:p.Arg1067= | |
| ENST00000367797.7:c.3186_3187delinsAA | ENSP00000356771.3:p.Arg1062= | |
| NM_000130.4:c.3186_3187delinsAA , LRG_553t1:c.3186_3187delinsAA | NP_000121.2:p.Arg1062= | |
| XM_017000660.2:c.2775_2776delinsAA | XP_016856149.1:p.Arg925= | |
| NM_000130.5:c.3186_3187delinsAA MANE Select | NP_000121.2:p.Arg1062= |