Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665966_39665967delinsAC , CM000679.2:g.39665966_39665967delinsAC | GRCh38 |
| NC_000017.10:g.37822219_37822220delinsAC , CM000679.1:g.37822219_37822220delinsAC | GRCh37 |
| NC_000017.9:g.35075745_35075746delinsAC | NCBI36 |
| NG_008892.1:g.5621_5622delinsAC , LRG_210:g.5621_5622delinsAC | |
| NG_042278.1:g.2986_2987delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.361_362delinsAC MANE Select | ENSP00000312624.2:p.Thr121= | |
| ENST00000309889.2:c.361_362delinsAC | ENSP00000312624.2:p.Thr121= | |
| ENST00000578283.1:c.289_290delinsAC | ENSP00000462787.1:p.Thr97= | |
| NM_003673.3:c.361_362delinsAC , LRG_210t1:c.361_362delinsAC | NP_003664.1:p.Thr121= | |
| NM_003673.4:c.361_362delinsAC MANE Select | NP_003664.1:p.Thr121= |