Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665409_39665410delinsCT , CM000679.2:g.39665409_39665410delinsCT | GRCh38 |
| NC_000017.10:g.37821662_37821663delinsCT , CM000679.1:g.37821662_37821663delinsCT | GRCh37 |
| NC_000017.9:g.35075188_35075189delinsCT | NCBI36 |
| NG_008892.1:g.5064_5065delinsCT , LRG_210:g.5064_5065delinsCT | |
| NG_042278.1:g.2429_2430delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.50_51delinsCT MANE Select | ENSP00000312624.2:p.Arg17Pro | |
| ENST00000309889.2:c.50_51delinsCT | ENSP00000312624.2:p.Arg17Pro | |
| ENST00000578283.1:c.50_51delinsCT | ENSP00000462787.1:p.Arg17Pro | |
| NM_003673.3:c.50_51delinsCT , LRG_210t1:c.50_51delinsCT | NP_003664.1:p.Arg17Pro | |
| NM_003673.4:c.50_51delinsCT MANE Select | NP_003664.1:p.Arg17Pro |