Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082828_3082829insGTCT , CM000682.2:g.3082828_3082829insGTCT | GRCh38 |
| NC_000020.10:g.3063474_3063475insGTCT , CM000682.1:g.3063474_3063475insGTCT | GRCh37 |
| NC_000020.9:g.3011474_3011475insGTCT | NCBI36 |
| NG_008663.1:g.6896_6897insAGAC , LRG_715:g.6896_6897insAGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.323-27_323-26insAGAC MANE Select | ENSP00000369647.3:n.323-27_323-26insAGAC | |
| NM_000490.4:c.323-27_323-26insAGAC , LRG_715t1:c.323-27_323-26insAGAC | NP_000481.2:n.323-27_323-26insAGAC | |
| XM_011529267.1:c.323-27_323-26insAGAC | XP_011527569.1:n.323-27_323-26insAGAC | |
| XM_011529267.2:c.323-27_323-26insAGAC | XP_011527569.1:n.323-27_323-26insAGAC | |
| NM_000490.5:c.323-27_323-26insAGAC MANE Select | NP_000481.2:n.323-27_323-26insAGAC |