Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665370_39665372delinsCAG , CM000679.2:g.39665370_39665372delinsCAG | GRCh38 |
| NC_000017.10:g.37821623_37821625delinsCAG , CM000679.1:g.37821623_37821625delinsCAG | GRCh37 |
| NC_000017.9:g.35075149_35075151delinsCAG | NCBI36 |
| NG_008892.1:g.5025_5027delinsCAG , LRG_210:g.5025_5027delinsCAG | |
| NG_042278.1:g.2390_2392delinsCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.11_13delinsCAG MANE Select | ENSP00000312624.2:p.Ser4= | |
| ENST00000309889.2:c.11_13delinsCAG | ENSP00000312624.2:p.Ser4= | |
| ENST00000578283.1:c.11_13delinsCAG | ENSP00000462787.1:p.Ser4= | |
| NM_003673.3:c.11_13delinsCAG , LRG_210t1:c.11_13delinsCAG | NP_003664.1:p.Ser4= | |
| NM_003673.4:c.11_13delinsCAG MANE Select | NP_003664.1:p.Ser4= |