Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071044_29071045insA , CM000664.2:g.29071044_29071045insA | GRCh38 |
| NC_000002.11:g.29293910_29293911insA , CM000664.1:g.29293910_29293911insA | GRCh37 |
| NC_000002.10:g.29147414_29147415insA | NCBI36 |
| NG_021427.1:g.8217_8218insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3217_3218insT MANE Select | ENSP00000332809.4:p.Pro1073LeufsTer? | |
| ENST00000331664.5:c.3217_3218insT | ENSP00000332809.4:p.Pro1073LeufsTer? | |
| NM_001029883.2:c.3217_3218insT | NP_001025054.1:p.Pro1073LeufsTer? | |
| XM_011532826.1:c.3217_3218insT | XP_011531128.1:p.Pro1073LeufsTer? | |
| XR_939901.1:n.185+1877_185+1878insA | ||
| XR_939902.1:n.173+1889_173+1890insA | ||
| NM_001029883.3:c.3217_3218insT MANE Select | NP_001025054.1:p.Pro1073LeufsTer? |