Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169549873_169549874delinsCT , CM000663.2:g.169549873_169549874delinsCT | GRCh38 |
| NC_000001.10:g.169519111_169519112delinsCT , CM000663.1:g.169519111_169519112delinsCT | GRCh37 |
| NC_000001.9:g.167785735_167785736delinsCT | NCBI36 |
| NG_011806.1:g.41658_41659delinsAG , LRG_553:g.41658_41659delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.1538_1539delinsAG MANE Select | NP_000121.2:p.Arg513Lys |
| ENST00000367797.9:c.1538_1539delinsAG MANE Select | ENSP00000356771.3:p.Arg513Lys |
| NM_000130.4:c.1538_1539delinsAG , LRG_553t1:c.1538_1539delinsAG | NP_000121.2:p.Arg513Lys |
| ENST00000367796.3:c.1538_1539delinsAG | ENSP00000356770.3:p.Arg513Lys |
| ENST00000367797.7:c.1538_1539delinsAG | ENSP00000356771.3:p.Arg513Lys |
| XM_017000660.2:c.1127_1128delinsAG | XP_016856149.1:p.Arg376Lys |