Linked Data
dbSNP Id:
rs750189420
ExAC:
16:67516712 GGTCTAGT / G
gnomAD v2:
16-67516712-GGTCTAGT-G
gnomAD v4:
16-67482809-GGTCTAGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67482810_67482816del , CM000678.2:g.67482810_67482816del | GRCh38 |
| NC_000016.9:g.67516713_67516719del , CM000678.1:g.67516713_67516719del | GRCh37 |
| NC_000016.8:g.66074214_66074220del | NCBI36 |
| NG_011482.1:g.3371_3377del | |
| NG_011501.1:g.5998_6004del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290953.3:c.219_225del (AGRP) MANE Select | ENSP00000290953.3:p.Leu74CysfsTer13 | |
| ENST00000290953.2:c.219_225del (AGRP) | ENSP00000290953.2:p.Leu74CysfsTer13 | |
| NM_001138.1:c.219_225del (AGRP) | NP_001129.1:p.Leu74CysfsTer13 | |
| XM_011522927.1:c.219_225del (AGRP) | XP_011521229.1:p.Leu74CysfsTer13 | |
| XR_243465.2:n.198+1291_199-1294del (ATP6V0D1-DT) | ||
| XR_933690.1:n.199+1291_200-1294del (ATP6V0D1-DT) | ||
| XR_933691.1:n.198+1291_199-1294del (ATP6V0D1-DT) | ||
| XR_933692.1:n.200+1291_201-1294del (ATP6V0D1-DT) | ||
| XR_001752246.1:n.193+1291_194-1294del (ATP6V0D1-DT) | ||
| XR_001752247.1:n.193+1291_194-1294del (ATP6V0D1-DT) | ||
| XR_001752248.1:n.195+1291_196-1294del (ATP6V0D1-DT) | ||
| XR_001752249.1:n.193+1291_194-1294del (ATP6V0D1-DT) | ||
| XR_001752250.1:n.193+1291_194-1294del (ATP6V0D1-DT) | ||
| XR_933690.2:n.195+1291_196-1294del (ATP6V0D1-DT) | ||
| XR_933691.2:n.201+1291_202-1294del (ATP6V0D1-DT) | ||
| XR_933692.2:n.196+1291_197-1294del (ATP6V0D1-DT) | ||
| NM_001138.2:c.219_225del (AGRP) MANE Select | NP_001129.1:p.Leu74CysfsTer13 |