Linked Data
ClinVar Variation Id:
7396
ClinVar RCV Id:
RCV000007820
dbSNP Id:
rs397515367
PubMed:
PMID:9462749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37973821_37973822del , CM000684.2:g.37973821_37973822del | GRCh38 |
| NC_000022.10:g.38369828_38369829del , CM000684.1:g.38369828_38369829del | GRCh37 |
| NC_000022.9:g.36699774_36699775del | NCBI36 |
| NG_007948.1:g.15714_15715del , LRG_271:g.15714_15715del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698177.1:c.1293_1294del (SOX10) | ENSP00000513596.1:p.Glu431AspfsTer? | |
| ENST00000690831.1:c.*699_*700del (SOX10) | ENSP00000510381.1:n.*699_*700del | |
| ENST00000396884.8:c.1077_1078del (SOX10) MANE Select | ENSP00000380093.2:p.Glu359AspfsTer? | |
| ENST00000651746.1:c.166-2815_166-2814del (SOX10) | ||
| ENST00000360880.6:c.1077_1078del (SOX10) | ENSP00000354130.2:p.Glu359AspfsTer? | |
| ENST00000396884.6:c.1077_1078del (SOX10) | ENSP00000380093.2:p.Glu359AspfsTer? | |
| ENST00000405557.5:c.293+6651_293+6652del (POLR2F) | ENSP00000384112.1:n.293+6651_293+6652del | |
| ENST00000407936.5:c.293+6651_293+6652del (POLR2F) | ENSP00000385725.1:n.293+6651_293+6652del | |
| ENST00000443002.5:c.*38+1511_*38+1512del (POLR2F) | ENSP00000406826.1:n.*38+1511_*38+1512del | |
| ENST00000446929.5:c.482+225_482+226del (SOX10) | ||
| NM_001301130.1:c.293+6651_293+6652del (POLR2F) | NP_001288059.1:n.293+6651_293+6652del | |
| NM_001301131.1:c.293+6651_293+6652del (POLR2F) | NP_001288060.1:n.293+6651_293+6652del | |
| NM_006941.3:c.1077_1078del , LRG_271t1:c.1077_1078del (SOX10) | NP_008872.1:p.Glu359AspfsTer? | |
| XR_938243.1:n.158+1511_158+1512del | ||
| NM_001363825.1:c.*38+1511_*38+1512del (POLR2F) | NP_001350754.1:n.*38+1511_*38+1512del | |
| NM_001301130.2:c.293+6651_293+6652del (POLR2F) | NP_001288059.1:n.293+6651_293+6652del | |
| NM_001301131.2:c.293+6651_293+6652del (POLR2F) | NP_001288060.1:n.293+6651_293+6652del | |
| NM_006941.4:c.1077_1078del (SOX10) MANE Select | NP_008872.1:p.Glu359AspfsTer? |