Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665568_39665569delinsTG , CM000679.2:g.39665568_39665569delinsTG | GRCh38 |
| NC_000017.10:g.37821821_37821822delinsTG , CM000679.1:g.37821821_37821822delinsTG | GRCh37 |
| NC_000017.9:g.35075347_35075348delinsTG | NCBI36 |
| NG_008892.1:g.5223_5224delinsTG , LRG_210:g.5223_5224delinsTG | |
| NG_042278.1:g.2588_2589delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.110+99_110+100delinsTG MANE Select | ENSP00000312624.2:n.110+99_110+100delinsTG | |
| ENST00000309889.2:c.110+99_110+100delinsTG | ENSP00000312624.2:n.110+99_110+100delinsTG | |
| ENST00000578283.1:c.110+99_110+100delinsTG | ENSP00000462787.1:n.110+99_110+100delinsTG | |
| NM_003673.3:c.110+99_110+100delinsTG , LRG_210t1:c.110+99_110+100delinsTG | NP_003664.1:n.110+99_110+100delinsTG | |
| NM_003673.4:c.110+99_110+100delinsTG MANE Select | NP_003664.1:n.110+99_110+100delinsTG |