Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665418_39665421delinsCCTT , CM000679.2:g.39665418_39665421delinsCCTT | GRCh38 |
| NC_000017.10:g.37821671_37821674delinsCCTT , CM000679.1:g.37821671_37821674delinsCCTT | GRCh37 |
| NC_000017.9:g.35075197_35075200delinsCCTT | NCBI36 |
| NG_008892.1:g.5073_5076delinsCCTT , LRG_210:g.5073_5076delinsCCTT | |
| NG_042278.1:g.2438_2441delinsCCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.59_62delinsCCTT MANE Select | ENSP00000312624.2:p.Ala20= | |
| ENST00000309889.2:c.59_62delinsCCTT | ENSP00000312624.2:p.Ala20= | |
| ENST00000578283.1:c.59_62delinsCCTT | ENSP00000462787.1:p.Ala20= | |
| NM_003673.3:c.59_62delinsCCTT , LRG_210t1:c.59_62delinsCCTT | NP_003664.1:p.Ala20= | |
| NM_003673.4:c.59_62delinsCCTT MANE Select | NP_003664.1:p.Ala20= |