Linked Data
ClinVar Variation Id:
375672
ClinVar RCV Id:
RCV000417157
dbSNP Id:
rs1057519602
gnomAD v3:
2-200571795-CAG-C
gnomAD v4:
2-200571795-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.200571799_200571800del , CM000664.2:g.200571799_200571800del | GRCh38 |
| NC_000002.11:g.201436522_201436523del , CM000664.1:g.201436522_201436523del | GRCh37 |
| NC_000002.10:g.201144767_201144768del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357799.9:c.1453_1454del MANE Select | ENSP00000350447.4:p.Glu485LysfsTer5 | |
| ENST00000357799.8:c.1453_1454del | ENSP00000350447.4:p.Glu485LysfsTer5 | |
| NM_001160033.1:c.1453_1454del | NP_001153505.1:p.Glu485LysfsTer5 | |
| NM_001160046.1:c.1453_1454del | NP_001153518.1:p.Glu485LysfsTer5 | |
| NM_152524.5:c.1453_1454del | NP_689737.4:p.Glu485LysfsTer5 | |
| XM_005246344.2:c.1498_1499del | XP_005246401.2:p.Glu500LysfsTer5 | |
| XM_005246345.2:c.1453_1454del | XP_005246402.1:p.Glu485LysfsTer5 | |
| XM_011510733.1:c.1453_1454del | XP_011509035.1:p.Glu485LysfsTer5 | |
| XM_011510734.1:c.1453_1454del | XP_011509036.1:p.Glu485LysfsTer5 | |
| XM_011510735.1:c.1453_1454del | XP_011509037.1:p.Glu485LysfsTer5 | |
| XM_005246344.4:c.1498_1499del | XP_005246401.2:p.Glu500LysfsTer5 | |
| XM_005246345.4:c.1453_1454del | XP_005246402.1:p.Glu485LysfsTer5 | |
| XM_011510734.3:c.1453_1454del | XP_011509036.1:p.Glu485LysfsTer5 | |
| XM_017003452.2:c.1543_1544del | XP_016858941.1:p.Glu515LysfsTer5 | |
| XM_017003453.1:c.1543_1544del | XP_016858942.1:p.Glu515LysfsTer5 | |
| XM_017003454.2:c.1543_1544del | XP_016858943.1:p.Glu515LysfsTer5 | |
| NM_152524.6:c.1453_1454del MANE Select | NP_689737.4:p.Glu485LysfsTer5 |