Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154042_55154043delinsCT , CM000681.2:g.55154042_55154043delinsCT | GRCh38 |
| NC_000019.9:g.55665410_55665411delinsCT , CM000681.1:g.55665410_55665411delinsCT | GRCh37 |
| NC_000019.8:g.60357222_60357223delinsCT | NCBI36 |
| NG_007866.2:g.8690_8691delinsAG , LRG_432:g.8690_8691delinsAG | |
| NG_011829.2:g.196_197delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.536_537delinsAG MANE Select | ENSP00000341838.5:p.Glu179= | |
| ENST00000665070.1:c.569_570delinsAG | ENSP00000499482.1:p.Glu190= | |
| ENST00000344887.9:c.536_537delinsAG | ENSP00000341838.5:p.Glu179= | |
| ENST00000585806.5:n.535_536delinsAG | ||
| ENST00000588882.1:c.461_462delinsAG | ENSP00000466729.1:p.Glu154= | |
| ENST00000589864.1:n.364_365delinsAG | ||
| NM_000363.4:c.536_537delinsAG , LRG_432t1:c.536_537delinsAG | NP_000354.4:p.Glu179= | |
| NM_000363.5:c.536_537delinsAG MANE Select | NP_000354.4:p.Glu179= |