Linked Data
ClinVar Variation Id:
7404
ClinVar RCV Id:
RCV000007829
MyVariant Identifiers:
chr22:g.38369818_38370945delinsAGG (hg19)
chr22:g.37973811_37974938delinsAGG (hg38)
PubMed:
PMID:17999358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37973811_37974938delinsAGG , CM000684.2:g.37973811_37974938delinsAGG | GRCh38 |
| NC_000022.10:g.38369818_38370945delinsAGG , CM000684.1:g.38369818_38370945delinsAGG | GRCh37 |
| NC_000022.9:g.36699764_36700891delinsAGG | NCBI36 |
| NG_007948.1:g.14595_15722delinsCCT , LRG_271:g.14595_15722delinsCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698177.1:c.914-740_1301delinsCCT (SOX10) | ||
| ENST00000690831.1:c.*320-740_*707delinsCCT (SOX10) | ||
| ENST00000396884.8:c.698-740_1085delinsCCT (SOX10) | ||
| ENST00000651746.1:c.165+2929_166-2807delinsCCT (SOX10) | ||
| ENST00000360880.6:c.698-740_1085delinsCCT (SOX10) | ||
| ENST00000396884.6:c.698-740_1085delinsCCT (SOX10) | ||
| ENST00000405557.5:c.293+6641_293+7768delinsAGG (POLR2F) | ENSP00000384112.1:n.293+6641_293+7768deli... | |
| ENST00000407936.5:c.293+6641_293+7768delinsAGG (POLR2F) | ENSP00000385725.1:n.293+6641_293+7768deli... | |
| ENST00000443002.5:c.*38+1501_*38+2628delinsAGG (POLR2F) | ENSP00000406826.1:n.*38+1501_*38+2628deli... | |
| ENST00000446929.5:c.328-740_482+233delinsCCT (SOX10) | ||
| NM_001301130.1:c.293+6641_293+7768delinsAGG (POLR2F) | NP_001288059.1:n.293+6641_293+7768delinsA... | |
| NM_001301131.1:c.293+6641_293+7768delinsAGG (POLR2F) | NP_001288060.1:n.293+6641_293+7768delinsA... | |
| NM_006941.3:c.698-740_1085delinsCCT , LRG_271t1:c.698-740_1085delinsCCT (SOX10) | ||
| XR_938243.1:n.158+1501_158+2628delinsAGG | ||
| NM_001363825.1:c.*38+1501_*38+2628delinsAGG (POLR2F) | NP_001350754.1:n.*38+1501_*38+2628delinsA... | |
| NM_001301130.2:c.293+6641_293+7768delinsAGG (POLR2F) | NP_001288059.1:n.293+6641_293+7768delinsA... | |
| NM_001301131.2:c.293+6641_293+7768delinsAGG (POLR2F) | NP_001288060.1:n.293+6641_293+7768delinsA... | |
| NM_006941.4:c.698-740_1085delinsCCT (SOX10) |