Linked Data
ClinVar Variation Id:
133303
ClinVar RCV Id:
RCV000119814
dbSNP Id:
rs483353057
PubMed:
PMID:25991456
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37983510_37983514del , CM000684.2:g.37983510_37983514del | GRCh38 |
| NC_000022.10:g.38379517_38379521del , CM000684.1:g.38379517_38379521del | GRCh37 |
| NC_000022.9:g.36709463_36709467del | NCBI36 |
| NG_007948.1:g.6019_6023del , LRG_271:g.6019_6023del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698177.1:c.487_491del (SOX10) | ENSP00000513596.1:p.Pro163AlafsTer? | |
| ENST00000690831.1:c.271_275del (SOX10) | ENSP00000510381.1:p.Pro91AlafsTer? | |
| ENST00000396884.8:c.271_275del (SOX10) MANE Select | ENSP00000380093.2:p.Pro91AlafsTer? | |
| ENST00000652356.1:n.560_564del (SOX10) | ||
| ENST00000360880.6:c.271_275del (SOX10) | ENSP00000354130.2:p.Pro91AlafsTer? | |
| ENST00000396884.6:c.271_275del (SOX10) | ENSP00000380093.2:p.Pro91AlafsTer? | |
| ENST00000405557.5:c.293+16340_293+16344del (POLR2F) | ENSP00000384112.1:n.293+16340_293+16344del | |
| ENST00000407936.5:c.294-2644_294-2640del (POLR2F) | ENSP00000385725.1:n.294-2644_294-2640del | |
| ENST00000427770.1:c.271_275del (SOX10) | ENSP00000414853.1:p.Pro91AlafsTer? | |
| ENST00000443002.5:c.*39-1542_*39-1538del (POLR2F) | ENSP00000406826.1:n.*39-1542_*39-1538del | |
| ENST00000470555.1:n.70+825_70+829del (SOX10) | ||
| NM_001301130.1:c.294-2644_294-2640del (POLR2F) | NP_001288059.1:n.294-2644_294-2640del | |
| NM_001301131.1:c.293+16340_293+16344del (POLR2F) | NP_001288060.1:n.293+16340_293+16344del | |
| NM_006941.3:c.271_275del , LRG_271t1:c.271_275del (SOX10) | NP_008872.1:p.Pro91AlafsTer? | |
| XR_938243.1:n.158+11200_158+11204del | ||
| NM_001363825.1:c.*38+11200_*38+11204del (POLR2F) | NP_001350754.1:n.*38+11200_*38+11204del | |
| NM_001301130.2:c.294-2644_294-2640del (POLR2F) | NP_001288059.1:n.294-2644_294-2640del | |
| NM_001301131.2:c.293+16340_293+16344del (POLR2F) | NP_001288060.1:n.293+16340_293+16344del | |
| NM_006941.4:c.271_275del (SOX10) MANE Select | NP_008872.1:p.Pro91AlafsTer? |