Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665930_39665931delinsAC , CM000679.2:g.39665930_39665931delinsAC | GRCh38 |
| NC_000017.10:g.37822183_37822184delinsAC , CM000679.1:g.37822183_37822184delinsAC | GRCh37 |
| NC_000017.9:g.35075709_35075710delinsAC | NCBI36 |
| NG_008892.1:g.5585_5586delinsAC , LRG_210:g.5585_5586delinsAC | |
| NG_042278.1:g.2950_2951delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.325_326delinsAC MANE Select | ENSP00000312624.2:p.Thr109= | |
| ENST00000309889.2:c.325_326delinsAC | ENSP00000312624.2:p.Thr109= | |
| ENST00000578283.1:c.253_254delinsAC | ENSP00000462787.1:p.Thr85= | |
| NM_003673.3:c.325_326delinsAC , LRG_210t1:c.325_326delinsAC | NP_003664.1:p.Thr109= | |
| NM_003673.4:c.325_326delinsAC MANE Select | NP_003664.1:p.Thr109= |