Linked Data
ClinVar Variation Id:
372273
ClinVar RCV Id:
RCV000412494
dbSNP Id:
rs1057517696
PubMed:
PMID:27773428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88188872del , CM000674.2:g.88188872del | GRCh38 |
| NC_000012.11:g.88582649del , CM000674.1:g.88582649del | GRCh37 |
| NC_000012.10:g.87106780del | NCBI36 |
| NG_021187.1:g.51577del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266712.11:c.1462del MANE Select | ENSP00000266712.6:p.Arg488GlufsTer6 | |
| ENST00000266712.10:c.1462del | ENSP00000266712.6:p.Arg488GlufsTer6 | |
| ENST00000547034.5:c.*365del | ENSP00000448733.1:n.*365del | |
| NM_181783.3:c.1462del | NP_861448.2:p.Arg488GlufsTer6 | |
| XM_005268683.3:c.316del | XP_005268740.1:p.Arg106GlufsTer6 | |
| XM_011537980.1:c.1243del | XP_011536282.1:p.Arg415GlufsTer6 | |
| XM_011537981.1:c.229del | XP_011536283.1:p.Arg77GlufsTer6 | |
| NM_001366574.1:c.1282del | NP_001353503.1:p.Arg428GlufsTer6 | |
| NM_001366579.1:c.1243del | NP_001353508.1:p.Arg415GlufsTer6 | |
| NM_001366580.1:c.1195del | NP_001353509.1:p.Arg399GlufsTer6 | |
| NM_001366583.1:c.769del | NP_001353512.1:p.Arg257GlufsTer6 | |
| NR_159381.1:n.1795del | ||
| NM_181783.4:c.1462del MANE Select | NP_861448.2:p.Arg488GlufsTer6 |