Linked Data
ClinVar Variation Id:
422819
dbSNP Id:
rs1064796020
gnomAD v3:
6-63788173-AC-A
gnomAD v4:
6-63788173-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63788174del , CM000668.2:g.63788174del | GRCh38 |
| NC_000006.11:g.64498067del , CM000668.1:g.64498067del | GRCh37 |
| NC_000006.10:g.64556026del | NCBI36 |
| NG_023443.1:g.1924052del | |
| NG_023443.2:g.1924052del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503581.6:c.7654del MANE Select | ENSP00000424243.1:p.Val2552Ter | |
| ENST00000370616.6:c.7654del | ENSP00000359650.2:p.Val2552Ter | |
| ENST00000370618.7:c.7654del | ENSP00000359652.4:p.Val2552Ter | |
| ENST00000370621.7:c.7654del | ENSP00000359655.3:p.Val2552Ter | |
| ENST00000398580.3:c.968del | ||
| ENST00000486069.1:n.294del | ||
| ENST00000503581.5:c.7654del | ENSP00000424243.1:p.Val2552Ter | |
| NM_001142800.1:c.7654del | NP_001136272.1:p.Val2552Ter | |
| NM_001292009.1:c.7654del | NP_001278938.1:p.Val2552Ter | |
| NM_001142800.2:c.7654del MANE Select | NP_001136272.1:p.Val2552Ter | |
| NM_001292009.2:c.7654del | NP_001278938.1:p.Val2552Ter |