Linked Data
gnomAD v4:
2-29070950-GTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070954_29070955del , CM000664.2:g.29070954_29070955del | GRCh38 |
| NC_000002.11:g.29293820_29293821del , CM000664.1:g.29293820_29293821del | GRCh37 |
| NC_000002.10:g.29147324_29147325del | NCBI36 |
| NG_021427.1:g.8310_8311del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3310_3311del MANE Select | ENSP00000332809.4:p.Asp1104LeufsTer2 | |
| ENST00000331664.5:c.3310_3311del | ENSP00000332809.4:p.Asp1104LeufsTer2 | |
| NM_001029883.2:c.3310_3311del | NP_001025054.1:p.Asp1104LeufsTer2 | |
| XM_011532826.1:c.3310_3311del | XP_011531128.1:p.Asp1104LeufsTer2 | |
| XR_939901.1:n.185+1787_185+1788del | ||
| XR_939902.1:n.173+1799_173+1800del | ||
| NM_001029883.3:c.3310_3311del MANE Select | NP_001025054.1:p.Asp1104LeufsTer2 |