Linked Data
ClinVar Variation Id:
8227
ClinVar RCV Id:
RCV000008710
dbSNP Id:
rs387906389
COSMIC:
COSM1368
PubMed:
PMID:11248065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51986840_51986844del , CM000674.2:g.51986840_51986844del | GRCh38 |
| NC_000012.11:g.52380624_52380628del , CM000674.1:g.52380624_52380628del | GRCh37 |
| NC_000012.10:g.50666891_50666895del | NCBI36 |
| NG_022926.1:g.40174_40178del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000257963.9:c.1159_1163del MANE Select | ENSP00000257963.4:p.Asp387AsnfsTer3 | |
| ENST00000257963.8:c.1159_1163del | ENSP00000257963.4:p.Asp387AsnfsTer3 | |
| ENST00000415850.6:c.1159_1163del | ENSP00000397550.2:p.Asp387AsnfsTer3 | |
| ENST00000426655.6:c.1159_1163del | ENSP00000390477.2:p.Asp387AsnfsTer3 | |
| ENST00000541224.5:c.1282_1286del | ENSP00000442656.1:p.Asp428AsnfsTer3 | |
| ENST00000542485.1:c.1003_1007del | ENSP00000442885.1:p.Asp335AsnfsTer3 | |
| ENST00000563121.1:n.289+1492_289+1496del | ||
| NM_004302.4:c.1159_1163del | NP_004293.1:p.Asp387AsnfsTer3 | |
| NM_020327.3:c.1003_1007del | NP_064732.3:p.Asp335AsnfsTer3 | |
| NM_020328.3:c.1282_1286del | NP_064733.3:p.Asp428AsnfsTer3 | |
| XM_011538966.1:c.1259+1492_1259+1496del | XP_011537268.1:n.1259+1492_1259+1496del | |
| XM_011538966.3:c.1259+1492_1259+1496del | XP_011537268.1:n.1259+1492_1259+1496del | |
| XM_017020201.2:c.1136+1492_1136+1496del | XP_016875690.1:n.1136+1492_1136+1496del | |
| NM_004302.5:c.1159_1163del MANE Select | NP_004293.1:p.Asp387AsnfsTer3 | |
| NM_020328.4:c.1282_1286del | NP_064733.3:p.Asp428AsnfsTer3 | |
| NM_020327.4:c.1003_1007del | NP_064732.3:p.Asp335AsnfsTer3 |