Linked Data
gnomAD v4:
2-29071077-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071077_29071078insG , CM000664.2:g.29071077_29071078insG | GRCh38 |
| NC_000002.11:g.29293943_29293944insG , CM000664.1:g.29293943_29293944insG | GRCh37 |
| NC_000002.10:g.29147447_29147448insG | NCBI36 |
| NG_021427.1:g.8184_8185insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3184_3185insC MANE Select | ENSP00000332809.4:p.Glu1062AlafsTer? | |
| ENST00000331664.5:c.3184_3185insC | ENSP00000332809.4:p.Glu1062AlafsTer? | |
| NM_001029883.2:c.3184_3185insC | NP_001025054.1:p.Glu1062AlafsTer? | |
| XM_011532826.1:c.3184_3185insC | XP_011531128.1:p.Glu1062AlafsTer? | |
| XR_939901.1:n.185+1910_185+1911insG | ||
| XR_939902.1:n.173+1922_173+1923insG | ||
| NM_001029883.3:c.3184_3185insC MANE Select | NP_001025054.1:p.Glu1062AlafsTer? |