Linked Data
dbSNP Id:
rs776068108
ExAC:
2:29293818 CTCT / C
gnomAD v2:
2-29293818-CTCT-C
gnomAD v4:
2-29070952-CTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29070954_29070956del , CM000664.2:g.29070954_29070956del | GRCh38 |
| NC_000002.11:g.29293820_29293822del , CM000664.1:g.29293820_29293822del | GRCh37 |
| NC_000002.10:g.29147324_29147326del | NCBI36 |
| NG_021427.1:g.8307_8309del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3307_3309del MANE Select | ENSP00000332809.4:p.Arg1103del | |
| ENST00000331664.5:c.3307_3309del | ENSP00000332809.4:p.Arg1103del | |
| NM_001029883.2:c.3307_3309del | NP_001025054.1:p.Arg1103del | |
| XM_011532826.1:c.3307_3309del | XP_011531128.1:p.Arg1103del | |
| XR_939901.1:n.185+1787_185+1789del | ||
| XR_939902.1:n.173+1799_173+1801del | ||
| NM_001029883.3:c.3307_3309del MANE Select | NP_001025054.1:p.Arg1103del |