Linked Data
ClinVar Variation Id:
188832
dbSNP Id:
rs770362721
ExAC:
9:133364772 CG / C
gnomAD v2:
9-133364772-CG-C
gnomAD v3:
9-130489385-CG-C
gnomAD v4:
9-130489385-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489386del , CM000671.2:g.130489386del | GRCh38 |
| NC_000009.11:g.133364773del , CM000671.1:g.133364773del | GRCh37 |
| NC_000009.10:g.132354594del | NCBI36 |
| NG_011542.1:g.49680del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.892del MANE Select | ENSP00000253004.6:p.Glu298ArgfsTer18 | |
| ENST00000352480.9:c.892del | ENSP00000253004.6:p.Glu298ArgfsTer18 | |
| ENST00000372386.6:n.163del | ||
| ENST00000372393.7:c.892del | ENSP00000361469.2:p.Glu298ArgfsTer18 | |
| ENST00000372394.5:c.892del | ENSP00000361471.1:p.Glu298ArgfsTer18 | |
| ENST00000470849.4:n.617del | ||
| ENST00000492400.5:n.401del | ||
| ENST00000493984.6:n.669del | ||
| NM_000050.4:c.892del | NP_000041.2:p.Glu298ArgfsTer18 | |
| NM_054012.3:c.892del | NP_446464.1:p.Glu298ArgfsTer18 | |
| XM_005272200.2:c.892del | XP_005272257.1:p.Glu298ArgfsTer18 | |
| XM_011518705.1:c.1006del | XP_011517007.1:p.Glu336ArgfsTer18 | |
| XM_005272200.3:c.892del | XP_005272257.1:p.Glu298ArgfsTer18 | |
| XM_011518705.2:c.1006del | XP_011517007.1:p.Glu336ArgfsTer18 | |
| XM_017014729.1:c.988del | XP_016870218.1:p.Glu330ArgfsTer18 | |
| NM_054012.4:c.892del MANE Select | NP_446464.1:p.Glu298ArgfsTer18 |