Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47349933_47349934delinsAG , CM000672.2:g.47349933_47349934delinsAG | GRCh38 |
| NC_000010.10:g.48389428_48389429delinsCT , CM000672.1:g.48389428_48389429delinsCT | GRCh37 |
| NC_000010.9:g.48009434_48009435delinsCT | NCBI36 |
| NG_029718.1:g.6563_6564delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1449_1450delinsAG MANE Select | ENSP00000463151.1:p.Gly483= | |
| ENST00000584701.1:c.1449_1450delinsAG | ENSP00000463151.1:p.Gly483= | |
| NM_002900.2:c.1449_1450delinsAG | NP_002891.1:p.Gly483= | |
| NM_002900.3:c.1449_1450delinsAG MANE Select | NP_002891.1:p.Gly483= |