Linked Data
dbSNP Id:
rs762032721
ExAC:
10:79759791 CG / C
gnomAD v2:
10-79759791-CG-C
gnomAD v4:
10-78000033-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78000035del , CM000672.2:g.78000035del | GRCh38 |
| NC_000010.10:g.79759793del , CM000672.1:g.79759793del | GRCh37 |
| NC_000010.9:g.79429799del | NCBI36 |
| NG_029648.1:g.34507del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698727.1:n.1623del | ||
| ENST00000698728.1:n.2142del | ||
| ENST00000698729.1:n.3688del | ||
| ENST00000698730.1:n.3688del | ||
| ENST00000698731.1:c.2422del | ENSP00000513898.1:p.Arg808GlyfsTer4 | |
| ENST00000698732.1:c.*1424del | ENSP00000513899.1:n.*1424del | |
| ENST00000698733.1:c.*1750del | ENSP00000513900.1:n.*1750del | |
| ENST00000698734.1:c.2563del | ENSP00000513901.1:p.Arg855GlyfsTer4 | |
| ENST00000698735.1:n.2678del | ||
| ENST00000698736.1:n.2678del | ||
| ENST00000698737.1:n.2678del | ||
| ENST00000698738.1:n.2678del | ||
| ENST00000698739.1:n.2678del | ||
| ENST00000372371.8:c.2563del MANE Select | ENSP00000361446.3:p.Arg855GlyfsTer4 | |
| ENST00000372371.7:c.2563del | ENSP00000361446.3:p.Arg855GlyfsTer4 | |
| ENST00000472014.5:n.469+4682del | ||
| NM_007055.3:c.2563del | NP_008986.2:p.Arg855GlyfsTer4 | |
| NM_007055.4:c.2563del MANE Select | NP_008986.2:p.Arg855GlyfsTer4 |