Linked Data
ClinVar Variation Id:
1120045
dbSNP Id:
rs2125316235
gnomAD v4:
2-38074945-GGCTGCGCGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38074951_38074960del , CM000664.2:g.38074951_38074960del | GRCh38 |
| NC_000002.11:g.38302094_38302103del , CM000664.1:g.38302094_38302103del | GRCh37 |
| NC_000002.10:g.38155598_38155607del | NCBI36 |
| NG_008386.2:g.6147_6156del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.434_443del | ENSP00000478839.2:p.Arg145ProfsTer4 | |
| ENST00000610745.5:c.434_443del MANE Select | ENSP00000478561.1:p.Arg145ProfsTer4 | |
| ENST00000494864.1:c.-70-3645_-70-3636del | ENSP00000479876.1:n.-70-3645_-70-3636del | |
| ENST00000610745.4:c.434_443del | ENSP00000478561.1:p.Arg145ProfsTer4 | |
| ENST00000613082.1:n.376-547_376-538del | ||
| ENST00000614273.1:c.434_443del | ENSP00000483678.1:p.Arg145ProfsTer4 | |
| NM_000104.3:c.434_443del | NP_000095.2:p.Arg145ProfsTer4 | |
| NM_000104.4:c.434_443del MANE Select | NP_000095.2:p.Arg145ProfsTer4 |