Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151907_55151908delinsCT , CM000681.2:g.55151907_55151908delinsCT | GRCh38 |
| NC_000019.9:g.55663275_55663276delinsCT , CM000681.1:g.55663275_55663276delinsCT | GRCh37 |
| NC_000019.8:g.60355087_60355088delinsCT | NCBI36 |
| NG_007866.2:g.10825_10826delinsAG , LRG_432:g.10825_10826delinsAG | |
| NG_011829.2:g.2331_2332delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.559_560delinsAG MANE Select | ENSP00000341838.5:p.Glu187Arg | |
| ENST00000665070.1:c.592_593delinsAG | ENSP00000499482.1:p.Glu198Arg | |
| ENST00000344887.9:c.559_560delinsAG | ENSP00000341838.5:p.Glu187Arg | |
| ENST00000585806.5:n.558_559delinsAG | ||
| ENST00000588882.1:c.484_485delinsAG | ENSP00000466729.1:p.Glu162Arg | |
| ENST00000589864.1:n.387_388delinsAG | ||
| NM_000363.4:c.559_560delinsAG , LRG_432t1:c.559_560delinsAG | NP_000354.4:p.Glu187Arg | |
| NM_000363.5:c.559_560delinsAG MANE Select | NP_000354.4:p.Glu187Arg |