Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070721_29070722insT , CM000664.2:g.29070721_29070722insT | GRCh38 |
| NC_000002.11:g.29293587_29293588insT , CM000664.1:g.29293587_29293588insT | GRCh37 |
| NC_000002.10:g.29147091_29147092insT | NCBI36 |
| NG_021427.1:g.8540_8541insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3540_3541insA MANE Select | ENSP00000332809.4:p.Leu1181ThrfsTer16 | |
| ENST00000331664.5:c.3540_3541insA | ENSP00000332809.4:p.Leu1181ThrfsTer16 | |
| NM_001029883.2:c.3540_3541insA | NP_001025054.1:p.Leu1181ThrfsTer16 | |
| XM_011532826.1:c.3540_3541insA | XP_011531128.1:p.Leu1181ThrfsTer16 | |
| XR_939901.1:n.185+1554_185+1555insT | ||
| XR_939902.1:n.173+1566_173+1567insT | ||
| NM_001029883.3:c.3540_3541insA MANE Select | NP_001025054.1:p.Leu1181ThrfsTer16 |