Linked Data
ClinVar Variation Id:
7407
ClinVar RCV Id:
RCV000007832
dbSNP Id:
rs397515369
PubMed:
PMID:18627047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37978060del , CM000684.2:g.37978060del | GRCh38 |
| NC_000022.10:g.38374067del , CM000684.1:g.38374067del | GRCh37 |
| NC_000022.9:g.36704013del | NCBI36 |
| NG_007948.1:g.11475del , LRG_271:g.11475del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698177.1:c.722del (SOX10) | ENSP00000513596.1:p.Pro241ArgfsTer? | |
| ENST00000690831.1:c.*128del (SOX10) | ENSP00000510381.1:n.*128del | |
| ENST00000396884.8:c.506del (SOX10) MANE Select | ENSP00000380093.2:p.Pro169ArgfsTer? | |
| ENST00000360880.6:c.506del (SOX10) | ENSP00000354130.2:p.Pro169ArgfsTer? | |
| ENST00000396884.6:c.506del (SOX10) | ENSP00000380093.2:p.Pro169ArgfsTer? | |
| ENST00000405557.5:c.293+10890del (POLR2F) | ENSP00000384112.1:n.293+10890del | |
| ENST00000407936.5:c.294-8094del (POLR2F) | ENSP00000385725.1:n.294-8094del | |
| ENST00000427770.1:c.506del (SOX10) | ENSP00000414853.1:p.Pro169ArgfsTer? | |
| ENST00000443002.5:c.*38+5750del (POLR2F) | ENSP00000406826.1:n.*38+5750del | |
| ENST00000446929.5:c.136del (SOX10) | ||
| NM_001301130.1:c.294-8094del (POLR2F) | NP_001288059.1:n.294-8094del | |
| NM_001301131.1:c.293+10890del (POLR2F) | NP_001288060.1:n.293+10890del | |
| NM_006941.3:c.506del , LRG_271t1:c.506del (SOX10) | NP_008872.1:p.Pro169ArgfsTer? | |
| XR_938243.1:n.158+5750del | ||
| NM_001363825.1:c.*38+5750del (POLR2F) | NP_001350754.1:n.*38+5750del | |
| NM_001301130.2:c.294-8094del (POLR2F) | NP_001288059.1:n.294-8094del | |
| NM_001301131.2:c.293+10890del (POLR2F) | NP_001288060.1:n.293+10890del | |
| NM_006941.4:c.506del (SOX10) MANE Select | NP_008872.1:p.Pro169ArgfsTer? |