Linked Data
gnomAD v4:
2-29070672-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070674del , CM000664.2:g.29070674del | GRCh38 |
| NC_000002.11:g.29293540del , CM000664.1:g.29293540del | GRCh37 |
| NC_000002.10:g.29147044del | NCBI36 |
| NG_021427.1:g.8589del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3589del MANE Select | ENSP00000332809.4:p.Arg1197AlafsTer? | |
| ENST00000331664.5:c.3589del | ENSP00000332809.4:p.Arg1197AlafsTer? | |
| NM_001029883.2:c.3589del | NP_001025054.1:p.Arg1197AlafsTer? | |
| XM_011532826.1:c.3589del | XP_011531128.1:p.Arg1197AlafsTer? | |
| XR_939901.1:n.185+1507del | ||
| XR_939902.1:n.173+1519del | ||
| NM_001029883.3:c.3589del MANE Select | NP_001025054.1:p.Arg1197AlafsTer? |