Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768489_115768490delinsCT , CM000663.2:g.115768489_115768490delinsCT | GRCh38 |
| NC_000001.10:g.116311110_116311111delinsCT , CM000663.1:g.116311110_116311111delinsCT | GRCh37 |
| NC_000001.9:g.116112633_116112634delinsCT | NCBI36 |
| NG_008802.1:g.5316_5317delinsAG , LRG_404:g.5316_5317delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-223-2_-223-1delinsAG | ENSP00000518226.1:n.-223-2_-223-1delinsAG | |
| ENST00000261448.6:c.52_53delinsAG MANE Select | ENSP00000261448.5:p.Arg18= | |
| ENST00000261448.5:c.52_53delinsAG | ENSP00000261448.5:p.Arg18= | |
| NM_001232.3:c.52_53delinsAG , LRG_404t1:c.52_53delinsAG | NP_001223.2:p.Arg18= | |
| NM_001232.4:c.52_53delinsAG MANE Select | NP_001223.2:p.Arg18= |